Linked Data
ClinVar Variation Id:
2092463
ClinVar RCV Id:
RCV003016102
MyVariant Identifiers:
chrX:g.19373824G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19355706G>C , CM000685.2:g.19355706G>C | GRCh38 |
| NC_000023.10:g.19373824G>C , CM000685.1:g.19373824G>C | GRCh37 |
| NC_000023.9:g.19283745G>C | NCBI36 |
| NG_016781.1:g.16814G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.801G>C | ENSP00000348062.6:p.Leu267= | |
| ENST00000379805.4:c.*472G>C | ENSP00000369133.3:n.*472G>C | |
| ENST00000417819.6:c.864G>C | ENSP00000404616.2:p.Leu288= | |
| ENST00000423505.6:c.894G>C | ENSP00000406473.2:p.Leu298= | |
| ENST00000481733.2:n.575G>C | ||
| ENST00000696704.1:c.*112G>C | ENSP00000512823.1:n.*112G>C | |
| ENST00000696705.1:c.*235G>C | ENSP00000512824.1:n.*235G>C | |
| ENST00000422285.7:c.780G>C MANE Select | ENSP00000394382.2:p.Leu260= | |
| ENST00000379804.1:c.-64G>C | ENSP00000369132.1:n.-64G>C | |
| ENST00000379806.9:c.894G>C | ENSP00000369134.5:p.Leu298= | |
| ENST00000422285.6:c.780G>C | ENSP00000394382.2:p.Leu260= | |
| ENST00000481733.1:n.208G>C | ||
| ENST00000540249.5:c.687G>C | ENSP00000440761.1:p.Leu229= | |
| ENST00000545074.5:c.801G>C | ENSP00000438550.1:p.Leu267= | |
| NM_000284.3:c.780G>C | NP_000275.1:p.Leu260= | |
| NM_001173454.1:c.894G>C | NP_001166925.1:p.Leu298= | |
| NM_001173455.1:c.801G>C | NP_001166926.1:p.Leu267= | |
| NM_001173456.1:c.687G>C | NP_001166927.1:p.Leu229= | |
| XM_011545531.1:c.915G>C | XP_011543833.1:p.Leu305= | |
| XM_011545532.1:c.822G>C | XP_011543834.1:p.Leu274= | |
| XM_017029574.2:c.801G>C | XP_016885063.1:p.Leu267= | |
| NM_000284.4:c.780G>C MANE Select | NP_000275.1:p.Leu260= | |
| NM_001173454.2:c.894G>C | NP_001166925.1:p.Leu298= | |
| NM_001173455.2:c.801G>C | NP_001166926.1:p.Leu267= | |
| NM_001173456.2:c.687G>C | NP_001166927.1:p.Leu229= |