A more recent version of the selected reference sequence NM_000834.3 is available (NM_000834.4):

Automap has added the updated variant description NM_000834.4:c.-19+17380G>A to the HGVS-compliant variants table For optimal mapping to a genomic position, we recommend submission of NM_000834.4:c.-19+17380G>A to VariantValidator NM_000834.4:c.-19+17380G>A MUST be fully validated prior to use in reports

HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_000834.3:c.-19+17380G>A
RefSeqGene (:g.) NG_031854.1:g.22541G>A
Predicted effect on protein (:p.) NP_000825.2:p.?
Predicted effect on protein (:p.) NP_000825.2:p.?
Updated Transcript (:c.) NM_000834.4:c.-19+17380G>A
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000012.11:g.14115482C>T GRCh37:12:14115482:C:T
NC_000012.12:g.13962548C>T GRCh38:12:13962548:C:T

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_031854.1:g.22541G>A
Chromosomal GRCh38 NC_000012.12:g.13962548C>T

Transcript description(s)

Reference sequence type Variant description
RefSeqGene NG_031854.1(NM_000834.3):c.-19+17380G>A
Chromosomal GRCh38 NC_000012.12(NM_000834.3):c.-19+17380G>A

Transcript-level variants overlapping genome coordinates NC_000012.12:13962548


Genomic coordinates (VCF) with respect to genome build GRCh38

12-13962548-C-T


Aggregated data sources and clinical significance

VariantValidator

Select Genome Build
Alignment method: