Linked Data
ClinVar Variation Id:
1446312
ClinVar RCV Id:
RCV002563461
dbSNP Id:
rs1242042498
gnomAD v4:
16-50722685-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50722685C>G , CM000678.2:g.50722685C>G | GRCh38 |
| NC_000016.9:g.50756596C>G , CM000678.1:g.50756596C>G | GRCh37 |
| NC_000016.8:g.49314097C>G | NCBI36 |
| NG_007508.1:g.30547C>G , LRG_177:g.30547C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.2382-7133C>G | ENSP00000493088.1:n.2382-7133C>G | |
| ENST00000646677.2:c.*462C>G | ENSP00000496533.1:n.*462C>G | |
| ENST00000697425.1:c.524C>G | ||
| ENST00000697426.1:c.412C>G | ||
| ENST00000697427.1:c.328C>G | ||
| ENST00000697428.1:n.2175C>G | ||
| ENST00000641284.1:c.2382-7133C>G | ENSP00000493088.1:n.2382-7133C>G | |
| ENST00000646677.1:c.*462C>G | ENSP00000496533.1:n.*462C>G | |
| ENST00000647318.2:c.2697C>G MANE Select | ENSP00000495993.1:p.His899Gln | |
| ENST00000300589.6:c.2778C>G | ENSP00000300589.2:p.His926Gln | |
| ENST00000524712.5:c.272C>G | ||
| ENST00000527052.5:c.244C>G | ||
| ENST00000529633.5:c.356C>G | ||
| ENST00000534057.1:c.412C>G | ||
| ENST00000534067.5:c.508C>G | ||
| NM_001293557.1:c.2697C>G | NP_001280486.1:p.His899Gln | |
| NM_022162.2:c.2778C>G | NP_071445.1:p.His926Gln | |
| XM_005256084.2:c.2697C>G | XP_005256141.1:p.His899Gln | |
| XM_006721242.2:c.2613C>G | XP_006721305.1:p.His871Gln | |
| XM_011523257.1:c.2274C>G | XP_011521559.1:p.His758Gln | |
| XM_011523258.1:c.2274C>G | XP_011521560.1:p.His758Gln | |
| XM_011523259.1:c.2112C>G | XP_011521561.1:p.His704Gln | |
| XR_429725.2:n.2619C>G | ||
| XR_429726.2:n.2535C>G | ||
| XR_933387.1:n.2815C>G | ||
| XM_005256084.4:c.2697C>G | XP_005256141.1:p.His899Gln | |
| XM_006721242.4:c.2613C>G | XP_006721305.1:p.His871Gln | |
| XM_011523259.2:c.2112C>G | XP_011521561.1:p.His704Gln | |
| XM_017023535.1:c.2205C>G | XP_016879024.1:p.His735Gln | |
| XM_017023536.1:c.2112C>G | XP_016879025.1:p.His704Gln | |
| XM_017023537.1:c.2112C>G | XP_016879026.1:p.His704Gln | |
| XM_017023538.1:c.2112C>G | XP_016879027.1:p.His704Gln | |
| XR_429725.3:n.2572C>G | ||
| XR_429726.3:n.2488C>G | ||
| XR_933387.2:n.2768C>G | ||
| NM_001293557.2:c.2697C>G | NP_001280486.1:p.His899Gln | |
| NM_001370466.1:c.2697C>G MANE Select | NP_001357395.1:p.His899Gln | |
| NM_022162.3:c.2778C>G | NP_071445.1:p.His926Gln | |
| NR_163434.1:n.2909C>G |