Linked Data
dbSNP Id:
rs756009266
ExAC:
X:107400481 C / T
gnomAD v2:
X-107400481-C-T
gnomAD v3:
X-108157251-C-T
gnomAD v4:
X-108157251-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108157251C>T , CM000685.2:g.108157251C>T | GRCh38 |
| NC_000023.10:g.107400481C>T , CM000685.1:g.107400481C>T | GRCh37 |
| NC_000023.9:g.107287137C>T | NCBI36 |
| NG_012059.2:g.287224G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334504.12:c.4822G>A MANE Select | ENSP00000334733.7:p.Ala1608Thr | |
| ENST00000334504.11:c.4822G>A | ENSP00000334733.7:p.Ala1608Thr | |
| ENST00000372216.8:c.4825G>A | ENSP00000361290.4:p.Ala1609Thr | |
| ENST00000394872.6:c.4873G>A | ENSP00000378340.3:p.Ala1625Thr | |
| ENST00000538570.5:c.4651G>A | ENSP00000445236.1:p.Ala1551Thr | |
| ENST00000545689.2:c.4786G>A | ENSP00000443707.2:p.Ala1596Thr | |
| ENST00000621266.4:c.4750G>A | ENSP00000482970.1:p.Ala1584Thr | |
| NM_001287758.1:c.4873G>A | NP_001274687.1:p.Ala1625Thr | |
| NM_001287759.1:c.4750G>A | NP_001274688.1:p.Ala1584Thr | |
| NM_001287760.1:c.4651G>A | NP_001274689.1:p.Ala1551Thr | |
| NM_001847.3:c.4825G>A | NP_001838.2:p.Ala1609Thr | |
| NM_033641.3:c.4822G>A | NP_378667.1:p.Ala1608Thr | |
| XM_006724617.2:c.4876G>A | XP_006724680.1:p.Ala1626Thr | |
| XM_011530852.1:c.4804G>A | XP_011529154.1:p.Ala1602Thr | |
| XM_011530853.1:c.4792G>A | XP_011529155.1:p.Ala1598Thr | |
| XM_006724617.3:c.4876G>A | XP_006724680.1:p.Ala1626Thr | |
| XM_011530852.2:c.4804G>A | XP_011529154.1:p.Ala1602Thr | |
| XM_011530853.3:c.4792G>A | XP_011529155.1:p.Ala1598Thr | |
| NM_001847.4:c.4825G>A | NP_001838.2:p.Ala1609Thr | |
| NM_033641.4:c.4822G>A MANE Select | NP_378667.1:p.Ala1608Thr | |
| NM_001287758.2:c.4873G>A | NP_001274687.1:p.Ala1625Thr | |
| NM_001287759.2:c.4750G>A | NP_001274688.1:p.Ala1584Thr | |
| NM_001287760.2:c.4651G>A | NP_001274689.1:p.Ala1551Thr |