Linked Data
ClinVar Variation Id:
1352171
ClinVar RCV Id:
RCV002047396
dbSNP Id:
rs2151670129
gnomAD v4:
15-98908726-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98908726A>G , CM000677.2:g.98908726A>G | GRCh38 |
| NC_000015.9:g.99451955A>G , CM000677.1:g.99451955A>G | GRCh37 |
| NC_000015.8:g.97269478A>G | NCBI36 |
| NG_009492.1:g.264195A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.1289A>G | ENSP00000496919.1:p.Gln430Arg | |
| ENST00000650285.1:c.1289A>G MANE Select | ENSP00000497069.1:p.Gln430Arg | |
| ENST00000268035.10:c.1289A>G | ENSP00000268035.6:p.Gln430Arg | |
| ENST00000558762.5:c.1289A>G | ENSP00000453007.1:p.Gln430Arg | |
| ENST00000558898.1:c.380A>G | ENSP00000454115.1:p.Gln127Arg | |
| ENST00000559582.1:n.196A>G | ||
| ENST00000559925.5:n.1289A>G | ||
| NM_000875.4:c.1289A>G | NP_000866.1:p.Gln430Arg | |
| NM_001291858.1:c.1289A>G | NP_001278787.1:p.Gln430Arg | |
| XM_011521513.1:c.1352A>G | XP_011519815.1:p.Gln451Arg | |
| XM_011521514.1:c.1352A>G | XP_011519816.1:p.Gln451Arg | |
| XM_011521515.1:c.1352A>G | XP_011519817.1:p.Gln451Arg | |
| XM_011521516.1:c.380A>G | XP_011519818.1:p.Gln127Arg | |
| XM_011521517.1:c.-47A>G | XP_011519819.1:n.-47A>G | |
| XM_011521516.2:c.380A>G | XP_011519818.1:p.Gln127Arg | |
| XM_011521517.2:c.-47A>G | XP_011519819.1:n.-47A>G | |
| XM_017022136.1:c.1364A>G | XP_016877625.1:p.Gln455Arg | |
| XM_017022137.1:c.1364A>G | XP_016877626.1:p.Gln455Arg | |
| XM_017022138.1:c.1364A>G | XP_016877627.1:p.Gln455Arg | |
| XM_017022139.1:c.926A>G | XP_016877628.1:p.Gln309Arg | |
| XM_024449913.1:c.380A>G | XP_024305681.1:p.Gln127Arg | |
| NM_000875.5:c.1289A>G MANE Select | NP_000866.1:p.Gln430Arg | |
| NM_001291858.2:c.1289A>G | NP_001278787.1:p.Gln430Arg |