Linked Data
ClinVar Variation Id:
1599813
ClinVar RCV Id:
RCV002116179
dbSNP Id:
rs776535833
ExAC:
X:19369388 C / T
gnomAD v2:
X-19369388-C-T
gnomAD v3:
X-19351270-C-T
gnomAD v4:
X-19351270-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19351270C>T , CM000685.2:g.19351270C>T | GRCh38 |
| NC_000023.10:g.19369388C>T , CM000685.1:g.19369388C>T | GRCh37 |
| NC_000023.9:g.19279309C>T | NCBI36 |
| NG_016781.1:g.12378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.302C>T | ENSP00000348062.6:p.Pro101Leu | |
| ENST00000379805.4:c.292-11C>T | ENSP00000369133.3:n.292-11C>T | |
| ENST00000417819.6:c.376-11C>T | ENSP00000404616.2:n.376-11C>T | |
| ENST00000423505.6:c.406-11C>T | ENSP00000406473.2:n.406-11C>T | |
| ENST00000696704.1:c.292-11C>T | ENSP00000512823.1:n.292-11C>T | |
| ENST00000696705.1:c.292-11C>T | ENSP00000512824.1:n.292-11C>T | |
| ENST00000422285.7:c.292-11C>T MANE Select | ENSP00000394382.2:n.292-11C>T | |
| ENST00000355808.9:c.302C>T | ENSP00000348062.5:p.Pro101Leu | |
| ENST00000379805.3:c.292-11C>T | ENSP00000369133.3:n.292-11C>T | |
| ENST00000379806.9:c.406-11C>T | ENSP00000369134.5:n.406-11C>T | |
| ENST00000422285.6:c.292-11C>T | ENSP00000394382.2:n.292-11C>T | |
| ENST00000423505.5:c.406-11C>T | ENSP00000406473.1:n.406-11C>T | |
| ENST00000492364.1:n.394-11C>T | ||
| ENST00000540249.5:c.292-11C>T | ENSP00000440761.1:n.292-11C>T | |
| ENST00000545074.5:c.302C>T | ENSP00000438550.1:p.Pro101Leu | |
| NM_000284.3:c.292-11C>T | NP_000275.1:n.292-11C>T | |
| NM_001173454.1:c.406-11C>T | NP_001166925.1:n.406-11C>T | |
| NM_001173455.1:c.302C>T | NP_001166926.1:p.Pro101Leu | |
| NM_001173456.1:c.292-11C>T | NP_001166927.1:n.292-11C>T | |
| XM_011545531.1:c.416C>T | XP_011543833.1:p.Pro139Leu | |
| XM_011545532.1:c.416C>T | XP_011543834.1:p.Pro139Leu | |
| XM_017029574.2:c.406-11C>T | XP_016885063.1:n.406-11C>T | |
| NM_000284.4:c.292-11C>T MANE Select | NP_000275.1:n.292-11C>T | |
| NM_001173454.2:c.406-11C>T | NP_001166925.1:n.406-11C>T | |
| NM_001173455.2:c.302C>T | NP_001166926.1:p.Pro101Leu | |
| NM_001173456.2:c.292-11C>T | NP_001166927.1:n.292-11C>T |