Linked Data
dbSNP Id:
rs756621561
ExAC:
6:32008244 G / A
gnomAD v2:
6-32008244-G-A
gnomAD v3:
6-32040467-G-A
gnomAD v4:
6-32040467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040467G>A , CM000668.2:g.32040467G>A | GRCh38 |
| NC_000006.11:g.32008244G>A , CM000668.1:g.32008244G>A | GRCh37 |
| NC_000006.10:g.32116223G>A | NCBI36 |
| NG_007941.2:g.7160G>A | |
| NG_008337.2:g.73908C>T | |
| NG_007941.3:g.7163G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1001G>A MANE Select | ENSP00000496625.1:p.Arg334Gln | |
| ENST00000418967.6:c.1001G>A | ENSP00000408860.2:p.Arg334Gln | |
| ENST00000435122.3:c.911G>A | ENSP00000415043.2:p.Arg304Gln | |
| ENST00000479074.5:n.1059G>A | ||
| ENST00000479730.5:n.1117G>A | ||
| ENST00000483041.5:n.1170G>A | ||
| ENST00000486063.5:n.980G>A | ||
| NM_000500.7:c.1001G>A | NP_000491.4:p.Arg334Gln | |
| NM_001128590.3:c.911G>A | NP_001122062.3:p.Arg304Gln | |
| XM_011514314.1:c.596G>A | XP_011512616.1:p.Arg199Gln | |
| NM_000500.9:c.1001G>A MANE Select | NP_000491.4:p.Arg334Gln | |
| NM_001368143.1:c.596G>A | NP_001355072.1:p.Arg199Gln | |
| NM_001368144.1:c.596G>A | NP_001355073.1:p.Arg199Gln | |
| NM_001128590.4:c.911G>A | NP_001122062.3:p.Arg304Gln | |
| NM_001368143.2:c.596G>A | NP_001355072.1:p.Arg199Gln | |
| NM_001368144.2:c.596G>A | NP_001355073.1:p.Arg199Gln |