Linked Data
dbSNP Id:
rs768507728
ExAC:
1:185964004 T / A
gnomAD v2:
1-185964004-T-A
gnomAD v4:
1-185994872-T-A
COSMIC:
COSM244931
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.185994872T>A , CM000663.2:g.185994872T>A | GRCh38 |
| NC_000001.10:g.185964004T>A , CM000663.1:g.185964004T>A | GRCh37 |
| NC_000001.9:g.184230627T>A | NCBI36 |
| NG_011841.1:g.265322T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.3563T>A MANE Select | ENSP00000271588.4:p.Val1188Glu | |
| ENST00000271588.8:c.3563T>A | ENSP00000271588.4:p.Val1188Glu | |
| NM_031935.2:c.3563T>A | NP_114141.2:p.Val1188Glu | |
| XM_011510037.1:c.3563T>A | XP_011508339.1:p.Val1188Glu | |
| XM_011510038.1:c.3563T>A | XP_011508340.1:p.Val1188Glu | |
| XM_011510039.1:c.3563T>A | XP_011508341.1:p.Val1188Glu | |
| XM_011510040.1:c.3563T>A | XP_011508342.1:p.Val1188Glu | |
| XM_011510041.1:c.3563T>A | XP_011508343.1:p.Val1188Glu | |
| XM_011510038.3:c.3563T>A | XP_011508340.1:p.Val1188Glu | |
| XM_011510041.3:c.3563T>A | XP_011508343.1:p.Val1188Glu | |
| XM_017002437.1:c.1586T>A | XP_016857926.1:p.Val529Glu | |
| XM_024450118.1:c.3563T>A | XP_024305886.1:p.Val1188Glu | |
| NM_031935.3:c.3563T>A MANE Select | NP_114141.2:p.Val1188Glu |