Linked Data
ClinVar Variation Id:
12183
dbSNP Id:
rs9378252
ExAC:
6:32006387 A / T
gnomAD v2:
6-32006387-A-T
gnomAD v3:
6-32038610-A-T
gnomAD v4:
6-32038610-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038610A>T , CM000668.2:g.32038610A>T | GRCh38 |
| NC_000006.11:g.32006387A>T , CM000668.1:g.32006387A>T | GRCh37 |
| NC_000006.10:g.32114366A>T | NCBI36 |
| NG_007941.2:g.5303A>T | |
| NG_007941.3:g.5306A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.188A>T MANE Select | ENSP00000496625.1:p.His63Leu | |
| ENST00000418967.6:c.188A>T | ENSP00000408860.2:p.His63Leu | |
| ENST00000435122.3:c.188A>T | ENSP00000415043.2:p.His63Leu | |
| ENST00000464325.5:n.28A>T | ||
| ENST00000466779.5:c.188A>T | ENSP00000417321.1:p.His63Leu | |
| ENST00000469053.5:c.188A>T | ENSP00000418104.1:p.His63Leu | |
| ENST00000471671.4:c.188A>T | ENSP00000418561.1:p.His63Leu | |
| ENST00000478281.5:c.188A>T | ENSP00000419572.1:p.His63Leu | |
| ENST00000479074.5:n.246A>T | ||
| ENST00000479730.5:n.246A>T | ||
| ENST00000480027.1:n.241A>T | ||
| ENST00000483041.5:n.241A>T | ||
| ENST00000486063.5:n.271A>T | ||
| ENST00000488465.1:n.196A>T | ||
| NM_000500.7:c.188A>T | NP_000491.4:p.His63Leu | |
| NM_001128590.3:c.188A>T | NP_001122062.3:p.His63Leu | |
| XM_011514314.1:c.-237A>T | XP_011512616.1:n.-237A>T | |
| NM_000500.9:c.188A>T MANE Select | NP_000491.4:p.His63Leu | |
| NM_001368143.1:c.-237A>T | NP_001355072.1:n.-237A>T | |
| NM_001368144.1:c.-147A>T | NP_001355073.1:n.-147A>T | |
| NM_001128590.4:c.188A>T | NP_001122062.3:p.His63Leu | |
| NM_001368143.2:c.-237A>T | NP_001355072.1:n.-237A>T | |
| NM_001368144.2:c.-147A>T | NP_001355073.1:n.-147A>T |