A more recent version of the selected reference sequence NM_000477.5 is available (NM_000477.6):

Automap has added the updated variant description NM_000477.6:c.1069G>A to the HGVS-compliant variants table For optimal mapping to a genomic position, we recommend submission of NM_000477.6:c.1069G>A to VariantValidator NM_000477.6:c.1069G>A MUST be fully validated prior to use in reports

HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_000477.5:c.1069G>A
RefSeqGene (:g.) NG_009291.1:g.15791G>A
Predicted effect on protein (:p.) NP_000468.1:p.(Glu357Lys)
Predicted effect on protein (:p.) NP_000468.1:p.(E357K)
Updated Transcript (:c.) NM_000477.6:c.1069G>A
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000004.11:g.74280762G>A GRCh37:4:74280762:G:A
NC_000004.12:g.73415045G>A GRCh38:4:73415045:G:A

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_009291.1:g.15791G>A
Chromosomal GRCh38 NC_000004.12:g.73415045G>A

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_000477.5:c.1069G>A

Transcript-level variants overlapping genome coordinates NC_000004.12:73415045

Genomic coordinates (VCF) with respect to genome build GRCh38


Aggregated data sources and clinical significance


Select Genome Build
Alignment method: