Linked Data
ClinVar Variation Id:
912973
dbSNP Id:
rs745607005
ExAC:
X:19373523 C / T
gnomAD v2:
X-19373523-C-T
gnomAD v3:
X-19355405-C-T
gnomAD v4:
X-19355405-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19355405C>T , CM000685.2:g.19355405C>T | GRCh38 |
| NC_000023.10:g.19373523C>T , CM000685.1:g.19373523C>T | GRCh37 |
| NC_000023.9:g.19283444C>T | NCBI36 |
| NG_016781.1:g.16513C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.681C>T | ENSP00000348062.6:p.Phe227= | |
| ENST00000379805.4:c.*352C>T | ENSP00000369133.3:n.*352C>T | |
| ENST00000417819.6:c.744C>T | ENSP00000404616.2:p.Phe248= | |
| ENST00000423505.6:c.774C>T | ENSP00000406473.2:p.Phe258= | |
| ENST00000481733.2:n.455C>T | ||
| ENST00000696704.1:c.475C>T | ENSP00000512823.1:p.His159Tyr | |
| ENST00000696705.1:c.*115C>T | ENSP00000512824.1:n.*115C>T | |
| ENST00000422285.7:c.660C>T MANE Select | ENSP00000394382.2:p.Phe220= | |
| ENST00000379806.9:c.774C>T | ENSP00000369134.5:p.Phe258= | |
| ENST00000422285.6:c.660C>T | ENSP00000394382.2:p.Phe220= | |
| ENST00000479146.1:n.495C>T | ||
| ENST00000481733.1:n.88C>T | ||
| ENST00000540249.5:c.567C>T | ENSP00000440761.1:p.Phe189= | |
| ENST00000545074.5:c.681C>T | ENSP00000438550.1:p.Phe227= | |
| NM_000284.3:c.660C>T | NP_000275.1:p.Phe220= | |
| NM_001173454.1:c.774C>T | NP_001166925.1:p.Phe258= | |
| NM_001173455.1:c.681C>T | NP_001166926.1:p.Phe227= | |
| NM_001173456.1:c.567C>T | NP_001166927.1:p.Phe189= | |
| XM_011545531.1:c.795C>T | XP_011543833.1:p.Phe265= | |
| XM_011545532.1:c.702C>T | XP_011543834.1:p.Phe234= | |
| XM_017029574.2:c.681C>T | XP_016885063.1:p.Phe227= | |
| NM_000284.4:c.660C>T MANE Select | NP_000275.1:p.Phe220= | |
| NM_001173454.2:c.774C>T | NP_001166925.1:p.Phe258= | |
| NM_001173455.2:c.681C>T | NP_001166926.1:p.Phe227= | |
| NM_001173456.2:c.567C>T | NP_001166927.1:p.Phe189= |