Linked Data
dbSNP Id:
rs761010614
ExAC:
6:32006634 A / T
gnomAD v2:
6-32006634-A-T
gnomAD v3:
6-32038857-A-T
gnomAD v4:
6-32038857-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038857A>T , CM000668.2:g.32038857A>T | GRCh38 |
| NC_000006.11:g.32006634A>T , CM000668.1:g.32006634A>T | GRCh37 |
| NC_000006.10:g.32114613A>T | NCBI36 |
| NG_007941.2:g.5550A>T | |
| NG_007941.3:g.5553A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.292+46A>T MANE Select | ENSP00000496625.1:n.292+46A>T | |
| ENST00000418967.6:c.292+46A>T | ENSP00000408860.2:n.292+46A>T | |
| ENST00000435122.3:c.202+233A>T | ENSP00000415043.2:n.202+233A>T | |
| ENST00000464325.5:n.229+46A>T | ||
| ENST00000466779.5:c.292+46A>T | ENSP00000417321.1:n.292+46A>T | |
| ENST00000466879.5:n.107A>T | ||
| ENST00000469053.5:c.203-218A>T | ENSP00000418104.1:n.203-218A>T | |
| ENST00000471671.4:c.292+46A>T | ENSP00000418561.1:n.292+46A>T | |
| ENST00000478281.5:c.292+46A>T | ENSP00000419572.1:n.292+46A>T | |
| ENST00000479074.5:n.350+46A>T | ||
| ENST00000479730.5:n.447+46A>T | ||
| ENST00000480027.1:n.391A>T | ||
| ENST00000483041.5:n.442+46A>T | ||
| ENST00000486063.5:n.472+46A>T | ||
| ENST00000488465.1:n.300+46A>T | ||
| NM_000500.7:c.292+46A>T | NP_000491.4:n.292+46A>T | |
| NM_001128590.3:c.202+233A>T | NP_001122062.3:n.202+233A>T | |
| XM_011514314.1:c.-133+46A>T | XP_011512616.1:n.-133+46A>T | |
| NM_000500.9:c.292+46A>T MANE Select | NP_000491.4:n.292+46A>T | |
| NM_001368143.1:c.-133+46A>T | NP_001355072.1:n.-133+46A>T | |
| NM_001368144.1:c.-132-218A>T | NP_001355073.1:n.-132-218A>T | |
| NM_001128590.4:c.202+233A>T | NP_001122062.3:n.202+233A>T | |
| NM_001368143.2:c.-133+46A>T | NP_001355072.1:n.-133+46A>T | |
| NM_001368144.2:c.-132-218A>T | NP_001355073.1:n.-132-218A>T |