Linked Data
ClinVar Variation Id:
1558292
ClinVar RCV Id:
RCV002190634
dbSNP Id:
rs764871850
ExAC:
X:19373559 T / C
gnomAD v2:
X-19373559-T-C
gnomAD v3:
X-19355441-T-C
gnomAD v4:
X-19355441-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19355441T>C , CM000685.2:g.19355441T>C | GRCh38 |
| NC_000023.10:g.19373559T>C , CM000685.1:g.19373559T>C | GRCh37 |
| NC_000023.9:g.19283480T>C | NCBI36 |
| NG_016781.1:g.16549T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.717T>C | ENSP00000348062.6:p.Ser239= | |
| ENST00000379805.4:c.*388T>C | ENSP00000369133.3:n.*388T>C | |
| ENST00000417819.6:c.780T>C | ENSP00000404616.2:p.Ser260= | |
| ENST00000423505.6:c.810T>C | ENSP00000406473.2:p.Ser270= | |
| ENST00000481733.2:n.491T>C | ||
| ENST00000696704.1:c.*28T>C | ENSP00000512823.1:n.*28T>C | |
| ENST00000696705.1:c.*151T>C | ENSP00000512824.1:n.*151T>C | |
| ENST00000422285.7:c.696T>C MANE Select | ENSP00000394382.2:p.Ser232= | |
| ENST00000379806.9:c.810T>C | ENSP00000369134.5:p.Ser270= | |
| ENST00000422285.6:c.696T>C | ENSP00000394382.2:p.Ser232= | |
| ENST00000479146.1:n.531T>C | ||
| ENST00000481733.1:n.124T>C | ||
| ENST00000540249.5:c.603T>C | ENSP00000440761.1:p.Ser201= | |
| ENST00000545074.5:c.717T>C | ENSP00000438550.1:p.Ser239= | |
| NM_000284.3:c.696T>C | NP_000275.1:p.Ser232= | |
| NM_001173454.1:c.810T>C | NP_001166925.1:p.Ser270= | |
| NM_001173455.1:c.717T>C | NP_001166926.1:p.Ser239= | |
| NM_001173456.1:c.603T>C | NP_001166927.1:p.Ser201= | |
| XM_011545531.1:c.831T>C | XP_011543833.1:p.Ser277= | |
| XM_011545532.1:c.738T>C | XP_011543834.1:p.Ser246= | |
| XM_017029574.2:c.717T>C | XP_016885063.1:p.Ser239= | |
| NM_000284.4:c.696T>C MANE Select | NP_000275.1:p.Ser232= | |
| NM_001173454.2:c.810T>C | NP_001166925.1:p.Ser270= | |
| NM_001173455.2:c.717T>C | NP_001166926.1:p.Ser239= | |
| NM_001173456.2:c.603T>C | NP_001166927.1:p.Ser201= |