Linked Data
ClinVar Variation Id:
133608
ClinVar RCV Id:
RCV000120124
RCV000159695
RCV000168026
RCV001250428
RCV001356154
RCV000656758
RCV004551177
dbSNP Id:
rs587778067
ExAC:
11:108129785 G / C
gnomAD v2:
11-108129785-G-C
gnomAD v3:
11-108259058-G-C
gnomAD v4:
11-108259058-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108259058G>C , CM000673.2:g.108259058G>C | GRCh38 |
| NC_000011.9:g.108129785G>C , CM000673.1:g.108129785G>C | GRCh37 |
| NC_000011.8:g.107634995G>C | NCBI36 |
| NG_009830.1:g.41227G>C , LRG_135:g.41227G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.2449G>C | ENSP00000388058.2:p.Asp817His | |
| ENST00000713593.1:c.*1920G>C | ENSP00000518889.1:n.*1920G>C | |
| ENST00000278616.9:c.2449G>C | ENSP00000278616.4:p.Asp817His | |
| ENST00000682516.1:n.2583G>C | ||
| ENST00000683174.1:n.2599G>C | ||
| ENST00000683605.1:n.1944G>C | ||
| ENST00000684037.1:c.*1384G>C | ENSP00000508245.1:n.*1384G>C | |
| ENST00000527805.6:c.2449G>C | ENSP00000435747.2:p.Asp817His | |
| ENST00000675595.1:c.2284G>C | ENSP00000502563.1:p.Asp762His | |
| ENST00000675843.1:c.2449G>C MANE Select | ENSP00000501606.1:p.Asp817His | |
| ENST00000278616.8:c.2449G>C | ENSP00000278616.4:p.Asp817His | |
| ENST00000452508.6:c.2449G>C | ENSP00000388058.2:p.Asp817His | |
| ENST00000527805.5:c.2449G>C | ENSP00000435747.1:p.Asp817His | |
| NM_000051.3:c.2449G>C , LRG_135t1:c.2449G>C | NP_000042.3:p.Asp817His | |
| XM_005271561.3:c.2449G>C | XP_005271618.2:p.Asp817His | |
| XM_005271562.3:c.2449G>C | XP_005271619.2:p.Asp817His | |
| XM_006718843.2:c.2449G>C | XP_006718906.1:p.Asp817His | |
| XM_011542840.1:c.2449G>C | XP_011541142.1:p.Asp817His | |
| XM_011542841.1:c.2449G>C | XP_011541143.1:p.Asp817His | |
| XM_011542842.1:c.2284G>C | XP_011541144.1:p.Asp762His | |
| XM_011542843.1:c.2449G>C | XP_011541145.1:p.Asp817His | |
| XM_011542844.1:c.1405G>C | XP_011541146.1:p.Asp469His | |
| XM_011542845.1:c.1141G>C | XP_011541147.1:p.Asp381His | |
| XM_011542846.1:c.2449G>C | XP_011541148.1:p.Asp817His | |
| NM_001351834.1:c.2449G>C | NP_001338763.1:p.Asp817His | |
| XM_005271562.5:c.2449G>C | XP_005271619.2:p.Asp817His | |
| XM_006718843.4:c.2449G>C | XP_006718906.1:p.Asp817His | |
| XM_011542840.3:c.2449G>C | XP_011541142.1:p.Asp817His | |
| XM_011542842.3:c.2284G>C | XP_011541144.1:p.Asp762His | |
| XM_011542843.2:c.2449G>C | XP_011541145.1:p.Asp817His | |
| XM_011542844.3:c.1405G>C | XP_011541146.1:p.Asp469His | |
| XM_011542845.2:c.1141G>C | XP_011541147.1:p.Asp381His | |
| XM_017017789.2:c.2449G>C | XP_016873278.1:p.Asp817His | |
| XM_017017790.2:c.2449G>C | XP_016873279.1:p.Asp817His | |
| XM_017017791.1:c.2449G>C | XP_016873280.1:p.Asp817His | |
| XM_017017792.2:c.2449G>C | XP_016873281.1:p.Asp817His | |
| XR_002957150.1:n.3182G>C | ||
| NM_001351834.2:c.2449G>C | NP_001338763.1:p.Asp817His | |
| NM_000051.4:c.2449G>C MANE Select | NP_000042.3:p.Asp817His |