Linked Data
ClinVar Variation Id:
798546
dbSNP Id:
rs778744930
ExAC:
X:19373520 T / C
gnomAD v2:
X-19373520-T-C
gnomAD v3:
X-19355402-T-C
gnomAD v4:
X-19355402-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19355402T>C , CM000685.2:g.19355402T>C | GRCh38 |
| NC_000023.10:g.19373520T>C , CM000685.1:g.19373520T>C | GRCh37 |
| NC_000023.9:g.19283441T>C | NCBI36 |
| NG_016781.1:g.16510T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.678T>C | ENSP00000348062.6:p.Ile226= | |
| ENST00000379805.4:c.*349T>C | ENSP00000369133.3:n.*349T>C | |
| ENST00000417819.6:c.741T>C | ENSP00000404616.2:p.Ile247= | |
| ENST00000423505.6:c.771T>C | ENSP00000406473.2:p.Ile257= | |
| ENST00000481733.2:n.452T>C | ||
| ENST00000696704.1:c.472T>C | ENSP00000512823.1:p.Phe158Leu | |
| ENST00000696705.1:c.*112T>C | ENSP00000512824.1:n.*112T>C | |
| ENST00000422285.7:c.657T>C MANE Select | ENSP00000394382.2:p.Ile219= | |
| ENST00000379806.9:c.771T>C | ENSP00000369134.5:p.Ile257= | |
| ENST00000422285.6:c.657T>C | ENSP00000394382.2:p.Ile219= | |
| ENST00000479146.1:n.492T>C | ||
| ENST00000481733.1:n.85T>C | ||
| ENST00000540249.5:c.564T>C | ENSP00000440761.1:p.Ile188= | |
| ENST00000545074.5:c.678T>C | ENSP00000438550.1:p.Ile226= | |
| NM_000284.3:c.657T>C | NP_000275.1:p.Ile219= | |
| NM_001173454.1:c.771T>C | NP_001166925.1:p.Ile257= | |
| NM_001173455.1:c.678T>C | NP_001166926.1:p.Ile226= | |
| NM_001173456.1:c.564T>C | NP_001166927.1:p.Ile188= | |
| XM_011545531.1:c.792T>C | XP_011543833.1:p.Ile264= | |
| XM_011545532.1:c.699T>C | XP_011543834.1:p.Ile233= | |
| XM_017029574.2:c.678T>C | XP_016885063.1:p.Ile226= | |
| NM_000284.4:c.657T>C MANE Select | NP_000275.1:p.Ile219= | |
| NM_001173454.2:c.771T>C | NP_001166925.1:p.Ile257= | |
| NM_001173455.2:c.678T>C | NP_001166926.1:p.Ile226= | |
| NM_001173456.2:c.564T>C | NP_001166927.1:p.Ile188= |