Linked Data
ClinVar Variation Id:
585755
dbSNP Id:
rs757608533
ExAC:
6:32006248 C / T
gnomAD v2:
6-32006248-C-T
gnomAD v3:
6-32038471-C-T
gnomAD v4:
6-32038471-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038471C>T , CM000668.2:g.32038471C>T | GRCh38 |
| NC_000006.11:g.32006248C>T , CM000668.1:g.32006248C>T | GRCh37 |
| NC_000006.10:g.32114227C>T | NCBI36 |
| NG_007941.2:g.5164C>T | |
| NG_007941.3:g.5167C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.49C>T MANE Select | ENSP00000496625.1:p.Arg17Cys | |
| ENST00000418967.6:c.49C>T | ENSP00000408860.2:p.Arg17Cys | |
| ENST00000435122.3:c.49C>T | ENSP00000415043.2:p.Arg17Cys | |
| ENST00000466779.5:c.49C>T | ENSP00000417321.1:p.Arg17Cys | |
| ENST00000469053.5:c.49C>T | ENSP00000418104.1:p.Arg17Cys | |
| ENST00000471671.4:c.49C>T | ENSP00000418561.1:p.Arg17Cys | |
| ENST00000478281.5:c.49C>T | ENSP00000419572.1:p.Arg17Cys | |
| ENST00000479074.5:n.107C>T | ||
| ENST00000479730.5:n.107C>T | ||
| ENST00000480027.1:n.102C>T | ||
| ENST00000483041.5:n.102C>T | ||
| ENST00000486063.5:n.132C>T | ||
| ENST00000488465.1:n.57C>T | ||
| NM_000500.7:c.49C>T | NP_000491.4:p.Arg17Cys | |
| NM_001128590.3:c.49C>T | NP_001122062.3:p.Arg17Cys | |
| XM_011514314.1:c.-376C>T | XP_011512616.1:n.-376C>T | |
| NM_000500.9:c.49C>T MANE Select | NP_000491.4:p.Arg17Cys | |
| NM_001368143.1:c.-376C>T | NP_001355072.1:n.-376C>T | |
| NM_001368144.1:c.-286C>T | NP_001355073.1:n.-286C>T | |
| NM_001128590.4:c.49C>T | NP_001122062.3:p.Arg17Cys | |
| NM_001368143.2:c.-376C>T | NP_001355072.1:n.-376C>T | |
| NM_001368144.2:c.-286C>T | NP_001355073.1:n.-286C>T |