Linked Data
dbSNP Id:
rs1776072933
gnomAD v4:
6-32039239-G-A
MyVariant Identifiers:
chr6:g.32007016G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039239G>A , CM000668.2:g.32039239G>A | GRCh38 |
| NC_000006.11:g.32007016G>A , CM000668.1:g.32007016G>A | GRCh37 |
| NC_000006.10:g.32114995G>A | NCBI36 |
| NG_007941.2:g.5932G>A | |
| NG_008337.2:g.75136C>T | |
| NG_007941.3:g.5935G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.438G>A MANE Select | ENSP00000496625.1:p.Glu146= | |
| ENST00000418967.6:c.438G>A | ENSP00000408860.2:p.Glu146= | |
| ENST00000435122.3:c.348G>A | ENSP00000415043.2:p.Glu116= | |
| ENST00000462278.1:n.26G>A | ||
| ENST00000464325.5:n.359G>A | ||
| ENST00000466779.5:c.*130G>A | ENSP00000417321.1:n.*130G>A | |
| ENST00000466879.5:n.489G>A | ||
| ENST00000469053.5:c.*130G>A | ENSP00000418104.1:n.*130G>A | |
| ENST00000471671.4:c.438G>A | ENSP00000418561.1:p.Glu146= | |
| ENST00000478281.5:c.471G>A | ENSP00000419572.1:p.Glu157= | |
| ENST00000479074.5:n.496G>A | ||
| ENST00000479730.5:n.593G>A | ||
| ENST00000483041.5:n.607G>A | ||
| ENST00000486063.5:n.618G>A | ||
| ENST00000488465.1:n.446G>A | ||
| NM_000500.7:c.438G>A | NP_000491.4:p.Glu146= | |
| NM_001128590.3:c.348G>A | NP_001122062.3:p.Glu116= | |
| XM_011514314.1:c.33G>A | XP_011512616.1:p.Glu11= | |
| NM_000500.9:c.438G>A MANE Select | NP_000491.4:p.Glu146= | |
| NM_001368143.1:c.33G>A | NP_001355072.1:p.Glu11= | |
| NM_001368144.1:c.33G>A | NP_001355073.1:p.Glu11= | |
| NM_001128590.4:c.348G>A | NP_001122062.3:p.Glu116= | |
| NM_001368143.2:c.33G>A | NP_001355072.1:p.Glu11= | |
| NM_001368144.2:c.33G>A | NP_001355073.1:p.Glu11= |