Linked Data
ClinVar Variation Id:
1956433
ClinVar RCV Id:
RCV002700841
dbSNP Id:
rs763660010
ExAC:
15:99452078 G / A
gnomAD v2:
15-99452078-G-A
gnomAD v3:
15-98908849-G-A
gnomAD v4:
15-98908849-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98908849G>A , CM000677.2:g.98908849G>A | GRCh38 |
| NC_000015.9:g.99452078G>A , CM000677.1:g.99452078G>A | GRCh37 |
| NC_000015.8:g.97269601G>A | NCBI36 |
| NG_009492.1:g.264318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.1412G>A | ENSP00000496919.1:p.Arg471His | |
| ENST00000650285.1:c.1412G>A MANE Select | ENSP00000497069.1:p.Arg471His | |
| ENST00000268035.10:c.1412G>A | ENSP00000268035.6:p.Arg471His | |
| ENST00000558762.5:c.1412G>A | ENSP00000453007.1:p.Arg471His | |
| ENST00000558898.1:c.503G>A | ENSP00000454115.1:p.Arg168His | |
| ENST00000559582.1:n.319G>A | ||
| ENST00000559925.5:n.1412G>A | ||
| NM_000875.4:c.1412G>A | NP_000866.1:p.Arg471His | |
| NM_001291858.1:c.1412G>A | NP_001278787.1:p.Arg471His | |
| XM_011521513.1:c.1475G>A | XP_011519815.1:p.Arg492His | |
| XM_011521514.1:c.1475G>A | XP_011519816.1:p.Arg492His | |
| XM_011521515.1:c.1475G>A | XP_011519817.1:p.Arg492His | |
| XM_011521516.1:c.503G>A | XP_011519818.1:p.Arg168His | |
| XM_011521517.1:c.77G>A | XP_011519819.1:p.Arg26His | |
| XM_011521516.2:c.503G>A | XP_011519818.1:p.Arg168His | |
| XM_011521517.2:c.77G>A | XP_011519819.1:p.Arg26His | |
| XM_017022136.1:c.1487G>A | XP_016877625.1:p.Arg496His | |
| XM_017022137.1:c.1487G>A | XP_016877626.1:p.Arg496His | |
| XM_017022138.1:c.1487G>A | XP_016877627.1:p.Arg496His | |
| XM_017022139.1:c.1049G>A | XP_016877628.1:p.Arg350His | |
| XM_024449913.1:c.503G>A | XP_024305681.1:p.Arg168His | |
| NM_000875.5:c.1412G>A MANE Select | NP_000866.1:p.Arg471His | |
| NM_001291858.2:c.1412G>A | NP_001278787.1:p.Arg471His |