Linked Data
ClinVar Variation Id:
1020017
ClinVar RCV Id:
RCV001319533
dbSNP Id:
rs759884906
ExAC:
21:45753101 C / T
gnomAD v2:
21-45753101-C-T
gnomAD v3:
21-44333218-C-T
gnomAD v4:
21-44333218-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333218C>T , CM000683.2:g.44333218C>T | GRCh38 |
| NC_000021.8:g.45753101C>T , CM000683.1:g.45753101C>T | GRCh37 |
| NC_000021.7:g.44577529C>T | NCBI36 |
| NG_032952.1:g.11185G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.188G>A MANE Select | ENSP00000344566.4:p.Arg63His | |
| ENST00000325223.7:c.188G>A | ENSP00000317302.7:p.Arg63His | |
| ENST00000339818.8:c.188G>A | ENSP00000344566.4:p.Arg63His | |
| ENST00000397956.7:c.188G>A | ENSP00000381047.3:p.Arg63His | |
| ENST00000462742.1:n.2359G>A | ||
| ENST00000478674.1:n.247G>A | ||
| ENST00000496321.5:n.304G>A | ||
| NM_001271440.1:c.188G>A | NP_001258369.1:p.Arg63His | |
| NM_001271441.1:c.188G>A | NP_001258370.1:p.Arg63His | |
| NM_001271442.1:c.65G>A | NP_001258371.1:p.Arg22His | |
| NM_004928.2:c.188G>A | NP_004919.1:p.Arg63His | |
| XM_006724051.2:c.263G>A | XP_006724114.1:p.Arg88His | |
| XM_006724052.2:c.263G>A | XP_006724115.1:p.Arg88His | |
| XM_006724053.2:c.-137G>A | XP_006724116.1:n.-137G>A | |
| XR_937571.1:n.391G>A | ||
| XM_006724051.3:c.263G>A | XP_006724114.1:p.Arg88His | |
| XM_006724053.3:c.-137G>A | XP_006724116.1:n.-137G>A | |
| XM_017028470.1:c.392G>A | XP_016883959.1:p.Arg131His | |
| XM_017028471.1:c.137G>A | XP_016883960.1:p.Arg46His | |
| XM_017028472.1:c.-137G>A | XP_016883961.1:n.-137G>A | |
| XR_937571.2:n.398G>A | ||
| NM_004928.3:c.188G>A MANE Select | NP_004919.1:p.Arg63His | |
| NM_001271440.2:c.188G>A | NP_001258369.1:p.Arg63His | |
| NM_001271441.2:c.188G>A | NP_001258370.1:p.Arg63His |