Linked Data
ClinVar Variation Id:
1016881
ClinVar RCV Id:
RCV001315952
dbSNP Id:
rs377552361
ExAC:
21:45753072 G / A
gnomAD v2:
21-45753072-G-A
gnomAD v3:
21-44333189-G-A
gnomAD v4:
21-44333189-G-A
COSMIC:
COSM2820714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333189G>A , CM000683.2:g.44333189G>A | GRCh38 |
| NC_000021.8:g.45753072G>A , CM000683.1:g.45753072G>A | GRCh37 |
| NC_000021.7:g.44577500G>A | NCBI36 |
| NG_032952.1:g.11214C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.217C>T MANE Select | ENSP00000344566.4:p.Arg73Cys | |
| ENST00000325223.7:c.217C>T | ENSP00000317302.7:p.Arg73Cys | |
| ENST00000339818.8:c.217C>T | ENSP00000344566.4:p.Arg73Cys | |
| ENST00000397956.7:c.217C>T | ENSP00000381047.3:p.Arg73Cys | |
| ENST00000462742.1:n.2388C>T | ||
| ENST00000478674.1:n.276C>T | ||
| ENST00000496321.5:n.333C>T | ||
| NM_001271440.1:c.217C>T | NP_001258369.1:p.Arg73Cys | |
| NM_001271441.1:c.217C>T | NP_001258370.1:p.Arg73Cys | |
| NM_001271442.1:c.94C>T | NP_001258371.1:p.Arg32Cys | |
| NM_004928.2:c.217C>T | NP_004919.1:p.Arg73Cys | |
| XM_006724051.2:c.292C>T | XP_006724114.1:p.Arg98Cys | |
| XM_006724052.2:c.292C>T | XP_006724115.1:p.Arg98Cys | |
| XM_006724053.2:c.-108C>T | XP_006724116.1:n.-108C>T | |
| XR_937571.1:n.420C>T | ||
| XM_006724051.3:c.292C>T | XP_006724114.1:p.Arg98Cys | |
| XM_006724053.3:c.-108C>T | XP_006724116.1:n.-108C>T | |
| XM_017028470.1:c.421C>T | XP_016883959.1:p.Arg141Cys | |
| XM_017028471.1:c.166C>T | XP_016883960.1:p.Arg56Cys | |
| XM_017028472.1:c.-108C>T | XP_016883961.1:n.-108C>T | |
| XR_937571.2:n.427C>T | ||
| NM_004928.3:c.217C>T MANE Select | NP_004919.1:p.Arg73Cys | |
| NM_001271440.2:c.217C>T | NP_001258369.1:p.Arg73Cys | |
| NM_001271441.2:c.217C>T | NP_001258370.1:p.Arg73Cys |