Linked Data
dbSNP Id:
rs775020715
ExAC:
X:107400227 A / C
gnomAD v2:
X-107400227-A-C
gnomAD v4:
X-108156997-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108156997A>C , CM000685.2:g.108156997A>C | GRCh38 |
| NC_000023.10:g.107400227A>C , CM000685.1:g.107400227A>C | GRCh37 |
| NC_000023.9:g.107286883A>C | NCBI36 |
| NG_012059.2:g.287478T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334504.12:c.*3T>G MANE Select | ENSP00000334733.7:n.*3T>G | |
| ENST00000334504.11:c.*3T>G | ENSP00000334733.7:n.*3T>G | |
| ENST00000372216.8:c.*3T>G | ENSP00000361290.4:n.*3T>G | |
| ENST00000394872.6:c.*3T>G | ENSP00000378340.3:n.*3T>G | |
| ENST00000538570.5:c.*3T>G | ENSP00000445236.1:n.*3T>G | |
| ENST00000545689.2:c.*3T>G | ENSP00000443707.2:n.*3T>G | |
| ENST00000621266.4:c.*3T>G | ENSP00000482970.1:n.*3T>G | |
| NM_001287758.1:c.*3T>G | NP_001274687.1:n.*3T>G | |
| NM_001287759.1:c.*3T>G | NP_001274688.1:n.*3T>G | |
| NM_001287760.1:c.*3T>G | NP_001274689.1:n.*3T>G | |
| NM_001847.3:c.*3T>G | NP_001838.2:n.*3T>G | |
| NM_033641.3:c.*3T>G | NP_378667.1:n.*3T>G | |
| XM_006724617.2:c.*3T>G | XP_006724680.1:n.*3T>G | |
| XM_011530852.1:c.*3T>G | XP_011529154.1:n.*3T>G | |
| XM_011530853.1:c.*3T>G | XP_011529155.1:n.*3T>G | |
| XM_006724617.3:c.*3T>G | XP_006724680.1:n.*3T>G | |
| XM_011530852.2:c.*3T>G | XP_011529154.1:n.*3T>G | |
| XM_011530853.3:c.*3T>G | XP_011529155.1:n.*3T>G | |
| NM_001847.4:c.*3T>G | NP_001838.2:n.*3T>G | |
| NM_033641.4:c.*3T>G MANE Select | NP_378667.1:n.*3T>G | |
| NM_001287758.2:c.*3T>G | NP_001274687.1:n.*3T>G | |
| NM_001287759.2:c.*3T>G | NP_001274688.1:n.*3T>G | |
| NM_001287760.2:c.*3T>G | NP_001274689.1:n.*3T>G |