Linked Data
ClinVar Variation Id:
373207
dbSNP Id:
rs148770452
ExAC:
1:201054144 T / A
gnomAD v2:
1-201054144-T-A
gnomAD v3:
1-201085016-T-A
gnomAD v4:
1-201085016-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201085016T>A , CM000663.2:g.201085016T>A | GRCh38 |
| NC_000001.10:g.201054144T>A , CM000663.1:g.201054144T>A | GRCh37 |
| NC_000001.9:g.199320767T>A | NCBI36 |
| NG_009816.1:g.32551A>T | |
| NG_009816.2:g.32551A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.1166A>T MANE Select | ENSP00000355192.3:p.Asp389Val | |
| ENST00000679417.1:c.*329A>T | ENSP00000506706.1:n.*329A>T | |
| ENST00000680059.1:c.1166A>T | ENSP00000504944.1:p.Asp389Val | |
| ENST00000681078.1:c.1166A>T | ENSP00000506645.1:p.Asp389Val | |
| ENST00000681190.1:c.1166A>T | ENSP00000506428.1:p.Asp389Val | |
| ENST00000681874.1:c.1166A>T | ENSP00000505162.1:p.Asp389Val | |
| ENST00000362061.3:c.1166A>T | ENSP00000355192.3:p.Asp389Val | |
| ENST00000367338.7:c.1166A>T | ENSP00000356307.3:p.Asp389Val | |
| NM_000069.2:c.1166A>T | NP_000060.2:p.Asp389Val | |
| XM_005245478.2:c.1166A>T | XP_005245535.1:p.Asp389Val | |
| XM_005245478.3:c.1166A>T | XP_005245535.1:p.Asp389Val | |
| NM_000069.3:c.1166A>T MANE Select | NP_000060.2:p.Asp389Val |