Linked Data
dbSNP Id:
rs762017598
ExAC:
6:32007000 A / G
gnomAD v2:
6-32007000-A-G
gnomAD v3:
6-32039223-A-G
gnomAD v4:
6-32039223-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039223A>G , CM000668.2:g.32039223A>G | GRCh38 |
| NC_000006.11:g.32007000A>G , CM000668.1:g.32007000A>G | GRCh37 |
| NC_000006.10:g.32114979A>G | NCBI36 |
| NG_007941.2:g.5916A>G | |
| NG_008337.2:g.75152T>C | |
| NG_007941.3:g.5919A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.422A>G MANE Select | ENSP00000496625.1:p.Glu141Gly | |
| ENST00000418967.6:c.422A>G | ENSP00000408860.2:p.Glu141Gly | |
| ENST00000435122.3:c.332A>G | ENSP00000415043.2:p.Glu111Gly | |
| ENST00000462278.1:n.10A>G | ||
| ENST00000464325.5:n.343A>G | ||
| ENST00000466779.5:c.*114A>G | ENSP00000417321.1:n.*114A>G | |
| ENST00000466879.5:n.473A>G | ||
| ENST00000469053.5:c.*114A>G | ENSP00000418104.1:n.*114A>G | |
| ENST00000471671.4:c.422A>G | ENSP00000418561.1:p.Glu141Gly | |
| ENST00000478281.5:c.455A>G | ENSP00000419572.1:p.Glu152Gly | |
| ENST00000479074.5:n.480A>G | ||
| ENST00000479730.5:n.577A>G | ||
| ENST00000483041.5:n.591A>G | ||
| ENST00000486063.5:n.602A>G | ||
| ENST00000488465.1:n.430A>G | ||
| NM_000500.7:c.422A>G | NP_000491.4:p.Glu141Gly | |
| NM_001128590.3:c.332A>G | NP_001122062.3:p.Glu111Gly | |
| XM_011514314.1:c.17A>G | XP_011512616.1:p.Glu6Gly | |
| NM_000500.9:c.422A>G MANE Select | NP_000491.4:p.Glu141Gly | |
| NM_001368143.1:c.17A>G | NP_001355072.1:p.Glu6Gly | |
| NM_001368144.1:c.17A>G | NP_001355073.1:p.Glu6Gly | |
| NM_001128590.4:c.332A>G | NP_001122062.3:p.Glu111Gly | |
| NM_001368143.2:c.17A>G | NP_001355072.1:p.Glu6Gly | |
| NM_001368144.2:c.17A>G | NP_001355073.1:p.Glu6Gly |