Linked Data
dbSNP Id:
rs1260524477
gnomAD v2:
6-32006938-C-G
gnomAD v3:
6-32039161-C-G
gnomAD v4:
6-32039161-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039161C>G , CM000668.2:g.32039161C>G | GRCh38 |
| NC_000006.11:g.32006938C>G , CM000668.1:g.32006938C>G | GRCh37 |
| NC_000006.10:g.32114917C>G | NCBI36 |
| NG_007941.2:g.5854C>G | |
| NG_008337.2:g.75214G>C | |
| NG_007941.3:g.5857C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.360C>G MANE Select | ENSP00000496625.1:p.His120Gln | |
| ENST00000418967.6:c.360C>G | ENSP00000408860.2:p.His120Gln | |
| ENST00000435122.3:c.270C>G | ENSP00000415043.2:p.His90Gln | |
| ENST00000464325.5:n.281C>G | ||
| ENST00000466779.5:c.*52C>G | ENSP00000417321.1:n.*52C>G | |
| ENST00000466879.5:n.411C>G | ||
| ENST00000469053.5:c.*52C>G | ENSP00000418104.1:n.*52C>G | |
| ENST00000471671.4:c.360C>G | ENSP00000418561.1:p.His120Gln | |
| ENST00000478281.5:c.393C>G | ENSP00000419572.1:p.His131Gln | |
| ENST00000479074.5:n.418C>G | ||
| ENST00000479730.5:n.515C>G | ||
| ENST00000483041.5:n.529C>G | ||
| ENST00000486063.5:n.540C>G | ||
| ENST00000488465.1:n.368C>G | ||
| NM_000500.7:c.360C>G | NP_000491.4:p.His120Gln | |
| NM_001128590.3:c.270C>G | NP_001122062.3:p.His90Gln | |
| XM_011514314.1:c.-46C>G | XP_011512616.1:n.-46C>G | |
| NM_000500.9:c.360C>G MANE Select | NP_000491.4:p.His120Gln | |
| NM_001368143.1:c.-46C>G | NP_001355072.1:n.-46C>G | |
| NM_001368144.1:c.-46C>G | NP_001355073.1:n.-46C>G | |
| NM_001128590.4:c.270C>G | NP_001122062.3:p.His90Gln | |
| NM_001368143.2:c.-46C>G | NP_001355072.1:n.-46C>G | |
| NM_001368144.2:c.-46C>G | NP_001355073.1:n.-46C>G |