Linked Data
ClinVar Variation Id:
464510
dbSNP Id:
rs368810689
ExAC:
12:119631494 T / A
gnomAD v2:
12-119631494-T-A
gnomAD v3:
12-119193689-T-A
gnomAD v4:
12-119193689-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119193689T>A , CM000674.2:g.119193689T>A | GRCh38 |
| NC_000012.11:g.119631494T>A , CM000674.1:g.119631494T>A | GRCh37 |
| NC_000012.10:g.118115877T>A | NCBI36 |
| NG_007953.2:g.19900T>A , LRG_249:g.19900T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281938.7:c.432-10T>A MANE Select | ENSP00000281938.3:n.432-10T>A | |
| ENST00000674542.1:c.368-10T>A | ENSP00000502352.1:n.368-10T>A | |
| ENST00000674715.1:n.605-10T>A | ||
| ENST00000674763.1:c.137-10T>A | ||
| ENST00000674852.1:c.64+6601T>A | ||
| ENST00000675110.1:c.178-10T>A | ||
| ENST00000675211.1:c.195-10T>A | ||
| ENST00000675573.1:c.64+6601T>A | ||
| ENST00000675900.1:n.22-23T>A | ||
| ENST00000676071.1:n.165-10T>A | ||
| ENST00000676244.1:n.138-10T>A | ||
| ENST00000281938.6:c.432-10T>A | ENSP00000281938.2:n.432-10T>A | |
| ENST00000541798.1:c.154+6601T>A | ||
| ENST00000542496.1:n.290-10T>A | ||
| NM_014365.2:c.432-10T>A , LRG_249t1:c.432-10T>A | NP_055180.1:n.432-10T>A | |
| NM_014365.3:c.432-10T>A MANE Select | NP_055180.1:n.432-10T>A |