Linked Data
dbSNP Id:
rs749639252
ExAC:
6:32006987 G / T
gnomAD v2:
6-32006987-G-T
gnomAD v3:
6-32039210-G-T
gnomAD v4:
6-32039210-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039210G>T , CM000668.2:g.32039210G>T | GRCh38 |
| NC_000006.11:g.32006987G>T , CM000668.1:g.32006987G>T | GRCh37 |
| NC_000006.10:g.32114966G>T | NCBI36 |
| NG_007941.2:g.5903G>T | |
| NG_008337.2:g.75165C>A | |
| NG_007941.3:g.5906G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.409G>T MANE Select | ENSP00000496625.1:p.Glu137Ter | |
| ENST00000418967.6:c.409G>T | ENSP00000408860.2:p.Glu137Ter | |
| ENST00000435122.3:c.319G>T | ENSP00000415043.2:p.Glu107Ter | |
| ENST00000464325.5:n.330G>T | ||
| ENST00000466779.5:c.*101G>T | ENSP00000417321.1:n.*101G>T | |
| ENST00000466879.5:n.460G>T | ||
| ENST00000469053.5:c.*101G>T | ENSP00000418104.1:n.*101G>T | |
| ENST00000471671.4:c.409G>T | ENSP00000418561.1:p.Glu137Ter | |
| ENST00000478281.5:c.442G>T | ENSP00000419572.1:p.Glu148Ter | |
| ENST00000479074.5:n.467G>T | ||
| ENST00000479730.5:n.564G>T | ||
| ENST00000483041.5:n.578G>T | ||
| ENST00000486063.5:n.589G>T | ||
| ENST00000488465.1:n.417G>T | ||
| NM_000500.7:c.409G>T | NP_000491.4:p.Glu137Ter | |
| NM_001128590.3:c.319G>T | NP_001122062.3:p.Glu107Ter | |
| XM_011514314.1:c.4G>T | XP_011512616.1:p.Glu2Ter | |
| NM_000500.9:c.409G>T MANE Select | NP_000491.4:p.Glu137Ter | |
| NM_001368143.1:c.4G>T | NP_001355072.1:p.Glu2Ter | |
| NM_001368144.1:c.4G>T | NP_001355073.1:p.Glu2Ter | |
| NM_001128590.4:c.319G>T | NP_001122062.3:p.Glu107Ter | |
| NM_001368143.2:c.4G>T | NP_001355072.1:p.Glu2Ter | |
| NM_001368144.2:c.4G>T | NP_001355073.1:p.Glu2Ter |