Linked Data
ClinVar Variation Id:
2119765
ClinVar RCV Id:
RCV003054820
dbSNP Id:
rs2147187335
MyVariant Identifiers:
chrX:g.19377094C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19358976C>T , CM000685.2:g.19358976C>T | GRCh38 |
| NC_000023.10:g.19377094C>T , CM000685.1:g.19377094C>T | GRCh37 |
| NC_000023.9:g.19287015C>T | NCBI36 |
| NG_016781.1:g.20084C>T | |
| NG_021184.1:g.161286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.981C>T | ENSP00000348062.6:p.Leu327= | |
| ENST00000379805.4:c.*652C>T | ENSP00000369133.3:n.*652C>T | |
| ENST00000417819.6:c.1044C>T | ENSP00000404616.2:p.Leu348= | |
| ENST00000423505.6:c.1074C>T | ENSP00000406473.2:p.Leu358= | |
| ENST00000481733.2:n.755C>T | ||
| ENST00000696704.1:c.*292C>T | ENSP00000512823.1:n.*292C>T | |
| ENST00000696705.1:c.*415C>T | ENSP00000512824.1:n.*415C>T | |
| ENST00000422285.7:c.960C>T MANE Select | ENSP00000394382.2:p.Leu320= | |
| ENST00000379804.1:c.117C>T | ENSP00000369132.1:p.Leu39= | |
| ENST00000379806.9:c.1074C>T | ENSP00000369134.5:p.Leu358= | |
| ENST00000422285.6:c.960C>T | ENSP00000394382.2:p.Leu320= | |
| ENST00000478795.1:n.399C>T | ||
| ENST00000481733.1:n.388C>T | ||
| ENST00000540249.5:c.867C>T | ENSP00000440761.1:p.Leu289= | |
| ENST00000545074.5:c.981C>T | ENSP00000438550.1:p.Leu327= | |
| NM_000284.3:c.960C>T | NP_000275.1:p.Leu320= | |
| NM_001173454.1:c.1074C>T | NP_001166925.1:p.Leu358= | |
| NM_001173455.1:c.981C>T | NP_001166926.1:p.Leu327= | |
| NM_001173456.1:c.867C>T | NP_001166927.1:p.Leu289= | |
| XM_011545531.1:c.1095C>T | XP_011543833.1:p.Leu365= | |
| XM_011545532.1:c.1002C>T | XP_011543834.1:p.Leu334= | |
| XM_017029574.2:c.981C>T | XP_016885063.1:p.Leu327= | |
| NM_000284.4:c.960C>T MANE Select | NP_000275.1:p.Leu320= | |
| NM_001173454.2:c.1074C>T | NP_001166925.1:p.Leu358= | |
| NM_001173455.2:c.981C>T | NP_001166926.1:p.Leu327= | |
| NM_001173456.2:c.867C>T | NP_001166927.1:p.Leu289= |