Linked Data
dbSNP Id:
rs12583006
gnomAD v2:
13-108937452-T-A
gnomAD v3:
13-108285104-T-A
gnomAD v4:
13-108285104-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108285104T>A , CM000675.2:g.108285104T>A | GRCh38 |
| NC_000013.10:g.108937452T>A , CM000675.1:g.108937452T>A | GRCh37 |
| NC_000013.9:g.107735453T>A | NCBI36 |
| NG_029524.1:g.20476T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375887.9:c.425-1699T>A MANE Select | ENSP00000365048.3:n.425-1699T>A | |
| ENST00000375887.8:c.425-1699T>A | ENSP00000365048.3:n.425-1699T>A | |
| ENST00000430559.5:c.424+14680T>A | ENSP00000389540.1:n.424+14680T>A | |
| ENST00000479435.1:n.199-1699T>A | ||
| ENST00000542136.1:c.425-1699T>A | ENSP00000445334.1:n.425-1699T>A | |
| NM_001145645.2:c.424+14680T>A | NP_001139117.1:n.424+14680T>A | |
| NM_006573.4:c.425-1699T>A | NP_006564.1:n.425-1699T>A | |
| XM_005254029.3:c.425-1699T>A | XP_005254086.1:n.425-1699T>A | |
| XR_429277.2:n.786+3292A>T | ||
| XR_001749468.1:n.2081-1699T>A | ||
| NM_006573.5:c.425-1699T>A MANE Select | NP_006564.1:n.425-1699T>A |