Linked Data
dbSNP Id:
rs2063213420
gnomAD v3:
X-19357696-C-T
gnomAD v4:
X-19357696-C-T
MyVariant Identifiers:
chrX:g.19375814C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357696C>T , CM000685.2:g.19357696C>T | GRCh38 |
| NC_000023.10:g.19375814C>T , CM000685.1:g.19375814C>T | GRCh37 |
| NC_000023.9:g.19285735C>T | NCBI36 |
| NG_016781.1:g.18804C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.897C>T | ENSP00000348062.6:p.His299= | |
| ENST00000379805.4:c.*568C>T | ENSP00000369133.3:n.*568C>T | |
| ENST00000417819.6:c.960C>T | ENSP00000404616.2:p.His320= | |
| ENST00000423505.6:c.990C>T | ENSP00000406473.2:p.His330= | |
| ENST00000481733.2:n.671C>T | ||
| ENST00000696704.1:c.*208C>T | ENSP00000512823.1:n.*208C>T | |
| ENST00000696705.1:c.*331C>T | ENSP00000512824.1:n.*331C>T | |
| ENST00000422285.7:c.876C>T MANE Select | ENSP00000394382.2:p.His292= | |
| ENST00000379804.1:c.33C>T | ENSP00000369132.1:p.His11= | |
| ENST00000379806.9:c.990C>T | ENSP00000369134.5:p.His330= | |
| ENST00000422285.6:c.876C>T | ENSP00000394382.2:p.His292= | |
| ENST00000478795.1:n.315C>T | ||
| ENST00000481733.1:n.304C>T | ||
| ENST00000540249.5:c.783C>T | ENSP00000440761.1:p.His261= | |
| ENST00000545074.5:c.897C>T | ENSP00000438550.1:p.His299= | |
| NM_000284.3:c.876C>T | NP_000275.1:p.His292= | |
| NM_001173454.1:c.990C>T | NP_001166925.1:p.His330= | |
| NM_001173455.1:c.897C>T | NP_001166926.1:p.His299= | |
| NM_001173456.1:c.783C>T | NP_001166927.1:p.His261= | |
| XM_011545531.1:c.1011C>T | XP_011543833.1:p.His337= | |
| XM_011545532.1:c.918C>T | XP_011543834.1:p.His306= | |
| XM_017029574.2:c.897C>T | XP_016885063.1:p.His299= | |
| NM_000284.4:c.876C>T MANE Select | NP_000275.1:p.His292= | |
| NM_001173454.2:c.990C>T | NP_001166925.1:p.His330= | |
| NM_001173455.2:c.897C>T | NP_001166926.1:p.His299= | |
| NM_001173456.2:c.783C>T | NP_001166927.1:p.His261= |