Linked Data
ClinVar Variation Id:
191253
ClinVar RCV Id:
RCV000171443
dbSNP Id:
rs769211787
ExAC:
X:107400232 A / C
gnomAD v2:
X-107400232-A-C
gnomAD v4:
X-108157002-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108157002A>C , CM000685.2:g.108157002A>C | GRCh38 |
| NC_000023.10:g.107400232A>C , CM000685.1:g.107400232A>C | GRCh37 |
| NC_000023.9:g.107286888A>C | NCBI36 |
| NG_012059.2:g.287473T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334504.12:c.5071T>G MANE Select | ENSP00000334733.7:p.Ter1691Glu | |
| ENST00000334504.11:c.5071T>G | ENSP00000334733.7:p.Ter1691Glu | |
| ENST00000372216.8:c.5074T>G | ENSP00000361290.4:p.Ter1692Glu | |
| ENST00000394872.6:c.5122T>G | ENSP00000378340.3:p.Ter1708Glu | |
| ENST00000538570.5:c.4900T>G | ENSP00000445236.1:p.Ter1634Glu | |
| ENST00000545689.2:c.5035T>G | ENSP00000443707.2:p.Ter1679Glu | |
| ENST00000621266.4:c.4999T>G | ENSP00000482970.1:p.Ter1667Glu | |
| NM_001287758.1:c.5122T>G | NP_001274687.1:p.Ter1708Glu | |
| NM_001287759.1:c.4999T>G | NP_001274688.1:p.Ter1667Glu | |
| NM_001287760.1:c.4900T>G | NP_001274689.1:p.Ter1634Glu | |
| NM_001847.3:c.5074T>G | NP_001838.2:p.Ter1692Glu | |
| NM_033641.3:c.5071T>G | NP_378667.1:p.Ter1691Glu | |
| XM_006724617.2:c.5125T>G | XP_006724680.1:p.Ter1709Glu | |
| XM_011530852.1:c.5053T>G | XP_011529154.1:p.Ter1685Glu | |
| XM_011530853.1:c.5041T>G | XP_011529155.1:p.Ter1681Glu | |
| XM_006724617.3:c.5125T>G | XP_006724680.1:p.Ter1709Glu | |
| XM_011530852.2:c.5053T>G | XP_011529154.1:p.Ter1685Glu | |
| XM_011530853.3:c.5041T>G | XP_011529155.1:p.Ter1681Glu | |
| NM_001847.4:c.5074T>G | NP_001838.2:p.Ter1692Glu | |
| NM_033641.4:c.5071T>G MANE Select | NP_378667.1:p.Ter1691Glu | |
| NM_001287758.2:c.5122T>G | NP_001274687.1:p.Ter1708Glu | |
| NM_001287759.2:c.4999T>G | NP_001274688.1:p.Ter1667Glu | |
| NM_001287760.2:c.4900T>G | NP_001274689.1:p.Ter1634Glu |