Linked Data
ClinVar Variation Id:
894
dbSNP Id:
rs121918173
ExAC:
7:65439613 G / A
gnomAD v2:
7-65439613-G-A
gnomAD v3:
7-65974626-G-A
gnomAD v4:
7-65974626-G-A
COSMIC:
COSM3085628
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65974626G>A , CM000669.2:g.65974626G>A | GRCh38 |
| NC_000007.13:g.65439613G>A , CM000669.1:g.65439613G>A | GRCh37 |
| NC_000007.12:g.65077048G>A | NCBI36 |
| NG_016197.1:g.12689C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1144C>T MANE Select | ENSP00000302728.4:p.Arg382Cys | |
| ENST00000304895.8:c.1144C>T | ENSP00000302728.4:p.Arg382Cys | |
| ENST00000421103.5:c.706C>T | ENSP00000391390.1:p.Arg236Cys | |
| ENST00000430730.5:c.*411C>T | ENSP00000411859.1:n.*411C>T | |
| ENST00000447929.5:c.*524C>T | ENSP00000411262.1:n.*524C>T | |
| ENST00000462371.1:n.222C>T | ||
| ENST00000465785.5:n.377C>T | ||
| ENST00000466883.5:n.1535C>T | ||
| ENST00000475316.5:n.382C>T | ||
| ENST00000479038.1:n.267C>T | ||
| ENST00000489482.1:n.381C>T | ||
| NM_000181.3:c.1144C>T | NP_000172.2:p.Arg382Cys | |
| NM_001284290.1:c.706C>T | NP_001271219.1:p.Arg236Cys | |
| NM_001293104.1:c.574C>T | NP_001280033.1:p.Arg192Cys | |
| NM_001293105.1:c.487C>T | NP_001280034.1:p.Arg163Cys | |
| NR_120531.1:n.1275C>T | ||
| XM_005250297.3:c.991C>T | XP_005250354.1:p.Arg331Cys | |
| XM_011516113.1:c.643C>T | XP_011514415.1:p.Arg215Cys | |
| XM_011516114.1:c.472C>T | XP_011514416.1:p.Arg158Cys | |
| XR_927461.1:n.1270C>T | ||
| XM_005250297.4:c.991C>T | XP_005250354.1:p.Arg331Cys | |
| XM_011516114.2:c.472C>T | XP_011514416.1:p.Arg158Cys | |
| XM_017012091.1:c.490C>T | XP_016867580.1:p.Arg164Cys | |
| XM_017012092.1:c.421C>T | XP_016867581.1:p.Arg141Cys | |
| XM_017012093.2:c.319C>T | XP_016867582.1:p.Arg107Cys | |
| XR_001744658.2:n.1036C>T | ||
| XR_001744659.2:n.1189C>T | ||
| XR_001744660.2:n.1036C>T | ||
| XR_001744661.2:n.1036C>T | ||
| XR_927461.3:n.1189C>T | ||
| NM_000181.4:c.1144C>T MANE Select | NP_000172.2:p.Arg382Cys | |
| NM_001284290.2:c.706C>T | NP_001271219.1:p.Arg236Cys | |
| NM_001293104.2:c.574C>T | NP_001280033.1:p.Arg192Cys | |
| NM_001293105.2:c.487C>T | NP_001280034.1:p.Arg163Cys | |
| NR_120531.2:n.1174C>T |