Linked Data
ClinVar Variation Id:
1261544
ClinVar RCV Id:
RCV001674122
dbSNP Id:
rs2286194
gnomAD v2:
7-81355449-T-A
gnomAD v3:
7-81726133-T-A
gnomAD v4:
7-81726133-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81726133T>A , CM000669.2:g.81726133T>A | GRCh38 |
| NC_000007.13:g.81355449T>A , CM000669.1:g.81355449T>A | GRCh37 |
| NC_000007.12:g.81193385T>A | NCBI36 |
| NG_016274.1:g.49004A>T | |
| NG_016274.2:g.49004A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222390.11:c.1041-116A>T MANE Select | ENSP00000222390.5:n.1041-116A>T | |
| ENST00000457544.7:c.1026-116A>T | ENSP00000391238.2:n.1026-116A>T | |
| ENST00000222390.9:c.1041-116A>T | ENSP00000222390.5:n.1041-116A>T | |
| ENST00000457544.6:c.1026-116A>T | ENSP00000391238.2:n.1026-116A>T | |
| NM_000601.4:c.1041-116A>T | NP_000592.3:n.1041-116A>T | |
| NM_001010932.1:c.1026-116A>T | NP_001010932.1:n.1026-116A>T | |
| XM_006715956.2:c.1041-116A>T | XP_006716019.1:n.1041-116A>T | |
| XM_011516115.1:c.1026-116A>T | XP_011514417.1:n.1026-116A>T | |
| NM_000601.5:c.1041-116A>T | NP_000592.3:n.1041-116A>T | |
| NM_001010932.2:c.1026-116A>T | NP_001010932.1:n.1026-116A>T | |
| XM_011516115.2:c.1026-116A>T | XP_011514417.1:n.1026-116A>T | |
| NM_000601.6:c.1041-116A>T MANE Select | NP_000592.3:n.1041-116A>T | |
| NM_001010932.3:c.1026-116A>T | NP_001010932.1:n.1026-116A>T |