A more recent version of the selected reference sequence NM_005514.6 is available (NM_005514.7): NM_005514.6:c.302G>C cannot be mapped directly to genome build GRCh38

Automap has added the updated variant description NM_005514.7:c.302G>C to the HGVS-compliant variants table For optimal mapping to a genomic position, we recommend submission of NM_005514.7:c.302G>C to VariantValidator NM_005514.7:c.302G>C MUST be fully validated prior to use in reports

HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_005514.6:c.302G>C
RefSeqGene (:g.) NG_023187.1:g.5484G>C
Predicted effect on protein (:p.) NP_005505.2:p.(Ser101Thr)
Predicted effect on protein (:p.) NP_005505.2:p.(S101T)
Updated Transcript (:c.) NM_005514.7:c.302G>C
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000006.11:g.31324506C>G GRCh37:6:31324506:C:G
NT_113891.2:g.2837194C>G GRCh37:HSCHR6_MHC_COX_CTG1:2837194:C:G
NT_167246.1:g.2670960T>G GRCh37:HSCHR6_MHC_MANN_CTG1:2670960:T:G
NT_167247.1:g.2704298C>G GRCh37:HSCHR6_MHC_MCF_CTG1:2704298:C:G
NT_167248.1:g.2618022C>G GRCh37:HSCHR6_MHC_QBL_CTG1:2618022:C:G
NT_167249.1:g.2658264T>G GRCh37:HSCHR6_MHC_SSTO_CTG1:2658264:T:G

Recommended variant descriptions

View recommended variant descriptions in UCSC Genome Browser

  1. We recommend using a genomic and a transcript description in all publications
  2. We currently recommend that RefSeqGene descriptions should be used when possible

Genomic descriptions

Reference sequence type Variant description
RefSeqGene NG_023187.1:g.5484G>C
Chromosomal GRCh38 NC_018917.2:g.31326423C>G

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_005514.6:c.302G>C

Transcript-level variants overlapping genome coordinates NC_018917.2:31326423


Genomic coordinates (VCF) with respect to genome build GRCh38

NC_018917.2-31326423-C-G


Aggregated data sources and clinical significance

VariantValidator

Select Genome Build
Alignment method: