Linked Data
gnomAD v3:
X-19357670-C-T
gnomAD v4:
X-19357670-C-T
MyVariant Identifiers:
chrX:g.19375788C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357670C>T , CM000685.2:g.19357670C>T | GRCh38 |
| NC_000023.10:g.19375788C>T , CM000685.1:g.19375788C>T | GRCh37 |
| NC_000023.9:g.19285709C>T | NCBI36 |
| NG_016781.1:g.18778C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.871C>T | ENSP00000348062.6:p.Leu291= | |
| ENST00000379805.4:c.*542C>T | ENSP00000369133.3:n.*542C>T | |
| ENST00000417819.6:c.934C>T | ENSP00000404616.2:p.Leu312= | |
| ENST00000423505.6:c.964C>T | ENSP00000406473.2:p.Leu322= | |
| ENST00000481733.2:n.645C>T | ||
| ENST00000696704.1:c.*182C>T | ENSP00000512823.1:n.*182C>T | |
| ENST00000696705.1:c.*305C>T | ENSP00000512824.1:n.*305C>T | |
| ENST00000422285.7:c.850C>T MANE Select | ENSP00000394382.2:p.Leu284= | |
| ENST00000379804.1:c.7C>T | ENSP00000369132.1:p.Leu3= | |
| ENST00000379806.9:c.964C>T | ENSP00000369134.5:p.Leu322= | |
| ENST00000422285.6:c.850C>T | ENSP00000394382.2:p.Leu284= | |
| ENST00000478795.1:n.289C>T | ||
| ENST00000481733.1:n.278C>T | ||
| ENST00000540249.5:c.757C>T | ENSP00000440761.1:p.Leu253= | |
| ENST00000545074.5:c.871C>T | ENSP00000438550.1:p.Leu291= | |
| NM_000284.3:c.850C>T | NP_000275.1:p.Leu284= | |
| NM_001173454.1:c.964C>T | NP_001166925.1:p.Leu322= | |
| NM_001173455.1:c.871C>T | NP_001166926.1:p.Leu291= | |
| NM_001173456.1:c.757C>T | NP_001166927.1:p.Leu253= | |
| XM_011545531.1:c.985C>T | XP_011543833.1:p.Leu329= | |
| XM_011545532.1:c.892C>T | XP_011543834.1:p.Leu298= | |
| XM_017029574.2:c.871C>T | XP_016885063.1:p.Leu291= | |
| NM_000284.4:c.850C>T MANE Select | NP_000275.1:p.Leu284= | |
| NM_001173454.2:c.964C>T | NP_001166925.1:p.Leu322= | |
| NM_001173455.2:c.871C>T | NP_001166926.1:p.Leu291= | |
| NM_001173456.2:c.757C>T | NP_001166927.1:p.Leu253= |