Linked Data
ClinVar Variation Id:
1264336
dbSNP Id:
rs566306310
ExAC:
6:32006342 A / G
gnomAD v2:
6-32006342-A-G
gnomAD v3:
6-32038565-A-G
gnomAD v4:
6-32038565-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038565A>G , CM000668.2:g.32038565A>G | GRCh38 |
| NC_000006.11:g.32006342A>G , CM000668.1:g.32006342A>G | GRCh37 |
| NC_000006.10:g.32114321A>G | NCBI36 |
| NG_007941.2:g.5258A>G | |
| NG_007941.3:g.5261A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.143A>G MANE Select | ENSP00000496625.1:p.Tyr48Cys | |
| ENST00000418967.6:c.143A>G | ENSP00000408860.2:p.Tyr48Cys | |
| ENST00000435122.3:c.143A>G | ENSP00000415043.2:p.Tyr48Cys | |
| ENST00000466779.5:c.143A>G | ENSP00000417321.1:p.Tyr48Cys | |
| ENST00000469053.5:c.143A>G | ENSP00000418104.1:p.Tyr48Cys | |
| ENST00000471671.4:c.143A>G | ENSP00000418561.1:p.Tyr48Cys | |
| ENST00000478281.5:c.143A>G | ENSP00000419572.1:p.Tyr48Cys | |
| ENST00000479074.5:n.201A>G | ||
| ENST00000479730.5:n.201A>G | ||
| ENST00000480027.1:n.196A>G | ||
| ENST00000483041.5:n.196A>G | ||
| ENST00000486063.5:n.226A>G | ||
| ENST00000488465.1:n.151A>G | ||
| NM_000500.7:c.143A>G | NP_000491.4:p.Tyr48Cys | |
| NM_001128590.3:c.143A>G | NP_001122062.3:p.Tyr48Cys | |
| XM_011514314.1:c.-282A>G | XP_011512616.1:n.-282A>G | |
| NM_000500.9:c.143A>G MANE Select | NP_000491.4:p.Tyr48Cys | |
| NM_001368143.1:c.-282A>G | NP_001355072.1:n.-282A>G | |
| NM_001368144.1:c.-192A>G | NP_001355073.1:n.-192A>G | |
| NM_001128590.4:c.143A>G | NP_001122062.3:p.Tyr48Cys | |
| NM_001368143.2:c.-282A>G | NP_001355072.1:n.-282A>G | |
| NM_001368144.2:c.-192A>G | NP_001355073.1:n.-192A>G |