Linked Data
ClinVar Variation Id:
374330
ClinVar RCV Id:
RCV000415131
dbSNP Id:
rs1057518702
gnomAD v3:
X-19351258-A-G
gnomAD v4:
X-19351258-A-G
PubMed:
PMID:21914562
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19351258A>G , CM000685.2:g.19351258A>G | GRCh38 |
| NC_000023.10:g.19369376A>G , CM000685.1:g.19369376A>G | GRCh37 |
| NC_000023.9:g.19279297A>G | NCBI36 |
| NG_016781.1:g.12366A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.292-2A>G | ENSP00000348062.6:n.292-2A>G | |
| ENST00000379805.4:c.292-23A>G | ENSP00000369133.3:n.292-23A>G | |
| ENST00000417819.6:c.376-23A>G | ENSP00000404616.2:n.376-23A>G | |
| ENST00000423505.6:c.406-23A>G | ENSP00000406473.2:n.406-23A>G | |
| ENST00000696704.1:c.292-23A>G | ENSP00000512823.1:n.292-23A>G | |
| ENST00000696705.1:c.292-23A>G | ENSP00000512824.1:n.292-23A>G | |
| ENST00000422285.7:c.292-23A>G MANE Select | ENSP00000394382.2:n.292-23A>G | |
| ENST00000355808.9:c.292-2A>G | ENSP00000348062.5:n.292-2A>G | |
| ENST00000379805.3:c.292-23A>G | ENSP00000369133.3:n.292-23A>G | |
| ENST00000379806.9:c.406-23A>G | ENSP00000369134.5:n.406-23A>G | |
| ENST00000422285.6:c.292-23A>G | ENSP00000394382.2:n.292-23A>G | |
| ENST00000423505.5:c.406-23A>G | ENSP00000406473.1:n.406-23A>G | |
| ENST00000492364.1:n.394-23A>G | ||
| ENST00000540249.5:c.292-23A>G | ENSP00000440761.1:n.292-23A>G | |
| ENST00000545074.5:c.292-2A>G | ENSP00000438550.1:n.292-2A>G | |
| NM_000284.3:c.292-23A>G | NP_000275.1:n.292-23A>G | |
| NM_001173454.1:c.406-23A>G | NP_001166925.1:n.406-23A>G | |
| NM_001173455.1:c.292-2A>G | NP_001166926.1:n.292-2A>G | |
| NM_001173456.1:c.292-23A>G | NP_001166927.1:n.292-23A>G | |
| XM_011545531.1:c.406-2A>G | XP_011543833.1:n.406-2A>G | |
| XM_011545532.1:c.406-2A>G | XP_011543834.1:n.406-2A>G | |
| XM_017029574.2:c.406-23A>G | XP_016885063.1:n.406-23A>G | |
| NM_000284.4:c.292-23A>G MANE Select | NP_000275.1:n.292-23A>G | |
| NM_001173454.2:c.406-23A>G | NP_001166925.1:n.406-23A>G | |
| NM_001173455.2:c.292-2A>G | NP_001166926.1:n.292-2A>G | |
| NM_001173456.2:c.292-23A>G | NP_001166927.1:n.292-23A>G |