Linked Data
ClinVar Variation Id:
1121068
ClinVar RCV Id:
RCV001451247
dbSNP Id:
rs1569191865
gnomAD v4:
X-19355709-C-T
MyVariant Identifiers:
chrX:g.19373827C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19355709C>T , CM000685.2:g.19355709C>T | GRCh38 |
| NC_000023.10:g.19373827C>T , CM000685.1:g.19373827C>T | GRCh37 |
| NC_000023.9:g.19283748C>T | NCBI36 |
| NG_016781.1:g.16817C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.804C>T | ENSP00000348062.6:p.Cys268= | |
| ENST00000379805.4:c.*475C>T | ENSP00000369133.3:n.*475C>T | |
| ENST00000417819.6:c.867C>T | ENSP00000404616.2:p.Cys289= | |
| ENST00000423505.6:c.897C>T | ENSP00000406473.2:p.Cys299= | |
| ENST00000481733.2:n.578C>T | ||
| ENST00000696704.1:c.*115C>T | ENSP00000512823.1:n.*115C>T | |
| ENST00000696705.1:c.*238C>T | ENSP00000512824.1:n.*238C>T | |
| ENST00000422285.7:c.783C>T MANE Select | ENSP00000394382.2:p.Cys261= | |
| ENST00000379804.1:c.-61C>T | ENSP00000369132.1:n.-61C>T | |
| ENST00000379806.9:c.897C>T | ENSP00000369134.5:p.Cys299= | |
| ENST00000422285.6:c.783C>T | ENSP00000394382.2:p.Cys261= | |
| ENST00000481733.1:n.211C>T | ||
| ENST00000540249.5:c.690C>T | ENSP00000440761.1:p.Cys230= | |
| ENST00000545074.5:c.804C>T | ENSP00000438550.1:p.Cys268= | |
| NM_000284.3:c.783C>T | NP_000275.1:p.Cys261= | |
| NM_001173454.1:c.897C>T | NP_001166925.1:p.Cys299= | |
| NM_001173455.1:c.804C>T | NP_001166926.1:p.Cys268= | |
| NM_001173456.1:c.690C>T | NP_001166927.1:p.Cys230= | |
| XM_011545531.1:c.918C>T | XP_011543833.1:p.Cys306= | |
| XM_011545532.1:c.825C>T | XP_011543834.1:p.Cys275= | |
| XM_017029574.2:c.804C>T | XP_016885063.1:p.Cys268= | |
| NM_000284.4:c.783C>T MANE Select | NP_000275.1:p.Cys261= | |
| NM_001173454.2:c.897C>T | NP_001166925.1:p.Cys299= | |
| NM_001173455.2:c.804C>T | NP_001166926.1:p.Cys268= | |
| NM_001173456.2:c.690C>T | NP_001166927.1:p.Cys230= |