Linked Data
dbSNP Id:
rs749721679
ExAC:
6:32007097 A / G
gnomAD v2:
6-32007097-A-G
gnomAD v4:
6-32039320-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039320A>G , CM000668.2:g.32039320A>G | GRCh38 |
| NC_000006.11:g.32007097A>G , CM000668.1:g.32007097A>G | GRCh37 |
| NC_000006.10:g.32115076A>G | NCBI36 |
| NG_007941.2:g.6013A>G | |
| NG_008337.2:g.75055T>C | |
| NG_007941.3:g.6016A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.448-36A>G MANE Select | ENSP00000496625.1:n.448-36A>G | |
| ENST00000418967.6:c.448-36A>G | ENSP00000408860.2:n.448-36A>G | |
| ENST00000435122.3:c.358-36A>G | ENSP00000415043.2:n.358-36A>G | |
| ENST00000462278.1:n.36-36A>G | ||
| ENST00000464325.5:n.369-36A>G | ||
| ENST00000466779.5:c.*140-36A>G | ENSP00000417321.1:n.*140-36A>G | |
| ENST00000466879.5:n.499-36A>G | ||
| ENST00000469053.5:c.*140-36A>G | ENSP00000418104.1:n.*140-36A>G | |
| ENST00000471671.4:c.448-36A>G | ENSP00000418561.1:n.448-36A>G | |
| ENST00000478281.5:c.481-36A>G | ENSP00000419572.1:n.481-36A>G | |
| ENST00000479074.5:n.506-36A>G | ||
| ENST00000479730.5:n.603-36A>G | ||
| ENST00000483041.5:n.617-36A>G | ||
| ENST00000486063.5:n.628-36A>G | ||
| ENST00000488465.1:n.456-36A>G | ||
| NM_000500.7:c.448-36A>G | NP_000491.4:n.448-36A>G | |
| NM_001128590.3:c.358-36A>G | NP_001122062.3:n.358-36A>G | |
| XM_011514314.1:c.43-36A>G | XP_011512616.1:n.43-36A>G | |
| NM_000500.9:c.448-36A>G MANE Select | NP_000491.4:n.448-36A>G | |
| NM_001368143.1:c.43-36A>G | NP_001355072.1:n.43-36A>G | |
| NM_001368144.1:c.43-36A>G | NP_001355073.1:n.43-36A>G | |
| NM_001128590.4:c.358-36A>G | NP_001122062.3:n.358-36A>G | |
| NM_001368143.2:c.43-36A>G | NP_001355072.1:n.43-36A>G | |
| NM_001368144.2:c.43-36A>G | NP_001355073.1:n.43-36A>G |