Linked Data
ClinVar Variation Id:
4422
ClinVar RCV Id:
RCV000004672
dbSNP Id:
rs121908136
gnomAD v2:
1-6512152-G-A
gnomAD v3:
1-6452092-G-A
gnomAD v4:
1-6452092-G-A
PubMed:
PMID:15930085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6452092G>A , CM000663.2:g.6452092G>A | GRCh38 |
| NC_000001.10:g.6512152G>A , CM000663.1:g.6512152G>A | GRCh37 |
| NC_000001.9:g.6434739G>A | NCBI36 |
| NG_015866.1:g.32305G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000434576.2:c.351G>A | ||
| ENST00000461727.6:c.623G>A | ENSP00000465308.1:p.Arg208Gln | |
| ENST00000475228.6:c.389G>A | ENSP00000488721.2:p.Arg130Gln | |
| ENST00000477679.2:c.376G>A | ||
| ENST00000636330.1:c.2321G>A | ENSP00000490186.1:p.Arg774Gln | |
| ENST00000636644.1:c.446G>A | ENSP00000490230.1:p.Arg149Gln | |
| ENST00000645284.1:c.2321G>A MANE Select | ENSP00000496593.1:p.Arg774Gln | |
| ENST00000377828.5:c.2321G>A | ENSP00000367059.1:p.Arg774Gln | |
| ENST00000416731.5:c.623G>A | ENSP00000399239.2:p.Arg208Gln | |
| ENST00000434576.1:c.351G>A | ||
| ENST00000461727.5:c.623G>A | ENSP00000465308.1:p.Arg208Gln | |
| ENST00000475228.5:c.386G>A | ENSP00000488721.1:p.Arg129Gln | |
| ENST00000477679.1:n.376G>A | ||
| ENST00000633239.1:c.470G>A | ENSP00000488071.1:p.Arg157Gln | |
| NM_031475.2:c.2321G>A | NP_113663.2:p.Arg774Gln | |
| XM_005263501.2:c.2258G>A | XP_005263558.1:p.Arg753Gln | |
| XM_011542231.1:c.2258G>A | XP_011540533.1:p.Arg753Gln | |
| XM_011542232.1:c.2231G>A | XP_011540534.1:p.Arg744Gln | |
| XM_011542233.1:c.1862G>A | XP_011540535.1:p.Arg621Gln | |
| XM_011542234.1:c.1199G>A | XP_011540536.1:p.Arg400Gln | |
| XM_011542235.1:c.2231G>A | XP_011540537.1:p.Arg744Gln | |
| XM_011542236.1:c.446G>A | XP_011540538.1:p.Arg149Gln | |
| NM_031475.3:c.2321G>A MANE Select | NP_113663.2:p.Arg774Gln | |
| XM_011542233.2:c.1862G>A | XP_011540535.1:p.Arg621Gln | |
| XM_011542236.2:c.446G>A | XP_011540538.1:p.Arg149Gln | |
| XM_017002433.1:c.2258G>A | XP_016857922.1:p.Arg753Gln | |
| XM_024450116.1:c.2231G>A | XP_024305884.1:p.Arg744Gln | |
| NM_001367473.1:c.2231G>A | NP_001354402.1:p.Arg744Gln | |
| NM_001367474.1:c.2258G>A | NP_001354403.1:p.Arg753Gln |