Linked Data
ClinVar Variation Id:
2164041
ClinVar RCV Id:
RCV003092642
dbSNP Id:
rs902040105
gnomAD v4:
X-19351289-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19351289C>T , CM000685.2:g.19351289C>T | GRCh38 |
| NC_000023.10:g.19369407C>T , CM000685.1:g.19369407C>T | GRCh37 |
| NC_000023.9:g.19279328C>T | NCBI36 |
| NG_016781.1:g.12397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.321C>T | ENSP00000348062.6:p.Cys107= | |
| ENST00000379805.4:c.300C>T | ENSP00000369133.3:p.Cys100= | |
| ENST00000417819.6:c.384C>T | ENSP00000404616.2:p.Cys128= | |
| ENST00000423505.6:c.414C>T | ENSP00000406473.2:p.Cys138= | |
| ENST00000696704.1:c.300C>T | ENSP00000512823.1:p.Cys100= | |
| ENST00000696705.1:c.300C>T | ENSP00000512824.1:p.Cys100= | |
| ENST00000422285.7:c.300C>T MANE Select | ENSP00000394382.2:p.Cys100= | |
| ENST00000355808.9:c.321C>T | ENSP00000348062.5:p.Cys107= | |
| ENST00000379805.3:c.300C>T | ENSP00000369133.3:p.Cys100= | |
| ENST00000379806.9:c.414C>T | ENSP00000369134.5:p.Cys138= | |
| ENST00000422285.6:c.300C>T | ENSP00000394382.2:p.Cys100= | |
| ENST00000423505.5:c.414C>T | ENSP00000406473.1:p.Cys138= | |
| ENST00000492364.1:n.402C>T | ||
| ENST00000540249.5:c.300C>T | ENSP00000440761.1:p.Cys100= | |
| ENST00000545074.5:c.321C>T | ENSP00000438550.1:p.Cys107= | |
| NM_000284.3:c.300C>T | NP_000275.1:p.Cys100= | |
| NM_001173454.1:c.414C>T | NP_001166925.1:p.Cys138= | |
| NM_001173455.1:c.321C>T | NP_001166926.1:p.Cys107= | |
| NM_001173456.1:c.300C>T | NP_001166927.1:p.Cys100= | |
| XM_011545531.1:c.435C>T | XP_011543833.1:p.Cys145= | |
| XM_011545532.1:c.435C>T | XP_011543834.1:p.Cys145= | |
| XM_017029574.2:c.414C>T | XP_016885063.1:p.Cys138= | |
| NM_000284.4:c.300C>T MANE Select | NP_000275.1:p.Cys100= | |
| NM_001173454.2:c.414C>T | NP_001166925.1:p.Cys138= | |
| NM_001173455.2:c.321C>T | NP_001166926.1:p.Cys107= | |
| NM_001173456.2:c.300C>T | NP_001166927.1:p.Cys100= |