Linked Data
dbSNP Id:
rs750737459
ExAC:
6:32006355 G / A
gnomAD v2:
6-32006355-G-A
gnomAD v4:
6-32038578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038578G>A , CM000668.2:g.32038578G>A | GRCh38 |
| NC_000006.11:g.32006355G>A , CM000668.1:g.32006355G>A | GRCh37 |
| NC_000006.10:g.32114334G>A | NCBI36 |
| NG_007941.2:g.5271G>A | |
| NG_007941.3:g.5274G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.156G>A MANE Select | ENSP00000496625.1:p.Leu52= | |
| ENST00000418967.6:c.156G>A | ENSP00000408860.2:p.Leu52= | |
| ENST00000435122.3:c.156G>A | ENSP00000415043.2:p.Leu52= | |
| ENST00000466779.5:c.156G>A | ENSP00000417321.1:p.Leu52= | |
| ENST00000469053.5:c.156G>A | ENSP00000418104.1:p.Leu52= | |
| ENST00000471671.4:c.156G>A | ENSP00000418561.1:p.Leu52= | |
| ENST00000478281.5:c.156G>A | ENSP00000419572.1:p.Leu52= | |
| ENST00000479074.5:n.214G>A | ||
| ENST00000479730.5:n.214G>A | ||
| ENST00000480027.1:n.209G>A | ||
| ENST00000483041.5:n.209G>A | ||
| ENST00000486063.5:n.239G>A | ||
| ENST00000488465.1:n.164G>A | ||
| NM_000500.7:c.156G>A | NP_000491.4:p.Leu52= | |
| NM_001128590.3:c.156G>A | NP_001122062.3:p.Leu52= | |
| XM_011514314.1:c.-269G>A | XP_011512616.1:n.-269G>A | |
| NM_000500.9:c.156G>A MANE Select | NP_000491.4:p.Leu52= | |
| NM_001368143.1:c.-269G>A | NP_001355072.1:n.-269G>A | |
| NM_001368144.1:c.-179G>A | NP_001355073.1:n.-179G>A | |
| NM_001128590.4:c.156G>A | NP_001122062.3:p.Leu52= | |
| NM_001368143.2:c.-269G>A | NP_001355072.1:n.-269G>A | |
| NM_001368144.2:c.-179G>A | NP_001355073.1:n.-179G>A |