Linked Data
ClinVar Variation Id:
228670
dbSNP Id:
rs143577178
ExAC:
1:6488328 C / T
gnomAD v2:
1-6488328-C-T
gnomAD v3:
1-6428268-C-T
gnomAD v4:
1-6428268-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6428268C>T , CM000663.2:g.6428268C>T | GRCh38 |
| NC_000001.10:g.6488328C>T , CM000663.1:g.6488328C>T | GRCh37 |
| NC_000001.9:g.6410915C>T | NCBI36 |
| NG_015866.1:g.8481C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636330.1:c.337C>T | ENSP00000490186.1:p.Arg113Cys | |
| ENST00000645284.1:c.337C>T MANE Select | ENSP00000496593.1:p.Arg113Cys | |
| ENST00000377828.5:c.337C>T | ENSP00000367059.1:p.Arg113Cys | |
| NM_031475.2:c.337C>T | NP_113663.2:p.Arg113Cys | |
| XM_005263501.2:c.337C>T | XP_005263558.1:p.Arg113Cys | |
| XM_011542231.1:c.337C>T | XP_011540533.1:p.Arg113Cys | |
| XM_011542232.1:c.337C>T | XP_011540534.1:p.Arg113Cys | |
| XM_011542235.1:c.337C>T | XP_011540537.1:p.Arg113Cys | |
| XM_011542237.1:c.337C>T | XP_011540539.1:p.Arg113Cys | |
| XM_011542238.1:c.337C>T | XP_011540540.1:p.Arg113Cys | |
| XR_946774.1:n.517C>T | ||
| XR_946775.1:n.517C>T | ||
| NM_031475.3:c.337C>T MANE Select | NP_113663.2:p.Arg113Cys | |
| XM_011542238.3:c.337C>T | XP_011540540.1:p.Arg113Cys | |
| XM_017002433.1:c.337C>T | XP_016857922.1:p.Arg113Cys | |
| XM_017002434.1:c.337C>T | XP_016857923.1:p.Arg113Cys | |
| XM_024450116.1:c.337C>T | XP_024305884.1:p.Arg113Cys | |
| NM_001367473.1:c.337C>T | NP_001354402.1:p.Arg113Cys | |
| NM_001367474.1:c.337C>T | NP_001354403.1:p.Arg113Cys |