Linked Data
ClinVar Variation Id:
436614
dbSNP Id:
rs749004431
ExAC:
21:36206863 C / T
gnomAD v2:
21-36206863-C-T
gnomAD v3:
21-34834566-C-T
gnomAD v4:
21-34834566-C-T
ERepo:
CA10014385/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34834566C>T , CM000683.2:g.34834566C>T | GRCh38 |
| NC_000021.8:g.36206863C>T , CM000683.1:g.36206863C>T | GRCh37 |
| NC_000021.7:g.35128733C>T | NCBI36 |
| NG_011402.2:g.1155146G>A , LRG_482:g.1155146G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675419.1:c.649G>A MANE Select | ENSP00000501943.1:p.Gly217Arg | |
| ENST00000300305.7:c.649G>A | ENSP00000300305.3:p.Gly217Arg | |
| ENST00000344691.8:c.568G>A | ENSP00000340690.4:p.Gly190Arg | |
| ENST00000358356.9:c.568G>A | ENSP00000351123.5:p.Gly190Arg | |
| ENST00000399237.6:c.613G>A | ENSP00000382182.2:p.Gly205Arg | |
| ENST00000399240.5:c.532+24908G>A | ENSP00000382184.1:n.532+24908G>A | |
| ENST00000437180.5:c.649G>A | ENSP00000409227.1:p.Gly217Arg | |
| ENST00000469087.1:n.185G>A | ||
| ENST00000482318.5:c.*239G>A | ENSP00000477067.1:n.*239G>A | |
| NM_001001890.2:c.568G>A | NP_001001890.1:p.Gly190Arg | |
| NM_001122607.1:c.568G>A | NP_001116079.1:p.Gly190Arg | |
| NM_001754.4:c.649G>A , LRG_482t1:c.649G>A | NP_001745.2:p.Gly217Arg | |
| XM_005261068.3:c.613G>A | XP_005261125.1:p.Gly205Arg | |
| XM_005261069.3:c.613+24908G>A | XP_005261126.1:n.613+24908G>A | |
| XM_011529766.1:c.649G>A | XP_011528068.1:p.Gly217Arg | |
| XM_011529767.1:c.610G>A | XP_011528069.1:p.Gly204Arg | |
| XM_011529768.1:c.574+24908G>A | XP_011528070.1:n.574+24908G>A | |
| XM_011529770.1:c.649G>A | XP_011528072.1:p.Gly217Arg | |
| XR_937576.1:n.828G>A | ||
| XM_005261069.4:c.613+24908G>A | XP_005261126.1:n.613+24908G>A | |
| XM_011529766.2:c.649G>A | XP_011528068.1:p.Gly217Arg | |
| XM_011529767.2:c.610G>A | XP_011528069.1:p.Gly204Arg | |
| XM_011529768.2:c.574+24908G>A | XP_011528070.1:n.574+24908G>A | |
| XM_011529770.2:c.649G>A | XP_011528072.1:p.Gly217Arg | |
| XM_017028487.1:c.496G>A | XP_016883976.1:p.Gly166Arg | |
| XR_937576.2:n.875G>A | ||
| NM_001001890.3:c.568G>A | NP_001001890.1:p.Gly190Arg | |
| NM_001122607.2:c.568G>A | NP_001116079.1:p.Gly190Arg | |
| NM_001754.5:c.649G>A MANE Select | NP_001745.2:p.Gly217Arg |