Linked Data
ClinVar Variation Id:
1984724
ClinVar RCV Id:
RCV002800349
dbSNP Id:
rs776339048
ExAC:
X:19375790 G / T
gnomAD v2:
X-19375790-G-T
gnomAD v3:
X-19357672-G-T
gnomAD v4:
X-19357672-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357672G>T , CM000685.2:g.19357672G>T | GRCh38 |
| NC_000023.10:g.19375790G>T , CM000685.1:g.19375790G>T | GRCh37 |
| NC_000023.9:g.19285711G>T | NCBI36 |
| NG_016781.1:g.18780G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.873G>T | ENSP00000348062.6:p.Leu291= | |
| ENST00000379805.4:c.*544G>T | ENSP00000369133.3:n.*544G>T | |
| ENST00000417819.6:c.936G>T | ENSP00000404616.2:p.Leu312= | |
| ENST00000423505.6:c.966G>T | ENSP00000406473.2:p.Leu322= | |
| ENST00000481733.2:n.647G>T | ||
| ENST00000696704.1:c.*184G>T | ENSP00000512823.1:n.*184G>T | |
| ENST00000696705.1:c.*307G>T | ENSP00000512824.1:n.*307G>T | |
| ENST00000422285.7:c.852G>T MANE Select | ENSP00000394382.2:p.Leu284= | |
| ENST00000379804.1:c.9G>T | ENSP00000369132.1:p.Leu3= | |
| ENST00000379806.9:c.966G>T | ENSP00000369134.5:p.Leu322= | |
| ENST00000422285.6:c.852G>T | ENSP00000394382.2:p.Leu284= | |
| ENST00000478795.1:n.291G>T | ||
| ENST00000481733.1:n.280G>T | ||
| ENST00000540249.5:c.759G>T | ENSP00000440761.1:p.Leu253= | |
| ENST00000545074.5:c.873G>T | ENSP00000438550.1:p.Leu291= | |
| NM_000284.3:c.852G>T | NP_000275.1:p.Leu284= | |
| NM_001173454.1:c.966G>T | NP_001166925.1:p.Leu322= | |
| NM_001173455.1:c.873G>T | NP_001166926.1:p.Leu291= | |
| NM_001173456.1:c.759G>T | NP_001166927.1:p.Leu253= | |
| XM_011545531.1:c.987G>T | XP_011543833.1:p.Leu329= | |
| XM_011545532.1:c.894G>T | XP_011543834.1:p.Leu298= | |
| XM_017029574.2:c.873G>T | XP_016885063.1:p.Leu291= | |
| NM_000284.4:c.852G>T MANE Select | NP_000275.1:p.Leu284= | |
| NM_001173454.2:c.966G>T | NP_001166925.1:p.Leu322= | |
| NM_001173455.2:c.873G>T | NP_001166926.1:p.Leu291= | |
| NM_001173456.2:c.759G>T | NP_001166927.1:p.Leu253= |