Linked Data
ClinVar Variation Id:
339877
dbSNP Id:
rs773689002
ExAC:
21:36252918 G / A
gnomAD v2:
21-36252918-G-A
gnomAD v3:
21-34880621-G-A
gnomAD v4:
21-34880621-G-A
ERepo:
CA10014514/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34880621G>A , CM000683.2:g.34880621G>A | GRCh38 |
| NC_000021.8:g.36252918G>A , CM000683.1:g.36252918G>A | GRCh37 |
| NC_000021.7:g.35174788G>A | NCBI36 |
| NG_011402.2:g.1109091C>T , LRG_482:g.1109091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.444C>T MANE Select | ENSP00000501943.1:p.Thr148= | |
| ENST00000300305.7:c.444C>T | ENSP00000300305.3:p.Thr148= | |
| ENST00000344691.8:c.363C>T | ENSP00000340690.4:p.Thr121= | |
| ENST00000358356.9:c.363C>T | ENSP00000351123.5:p.Thr121= | |
| ENST00000399237.6:c.408C>T | ENSP00000382182.2:p.Thr136= | |
| ENST00000399240.5:c.363C>T | ENSP00000382184.1:p.Thr121= | |
| ENST00000437180.5:c.444C>T | ENSP00000409227.1:p.Thr148= | |
| ENST00000455571.5:c.405C>T | ENSP00000388189.1:p.Thr135= | |
| ENST00000482318.5:c.*34C>T | ENSP00000477067.1:n.*34C>T | |
| NM_001001890.2:c.363C>T | NP_001001890.1:p.Thr121= | |
| NM_001122607.1:c.363C>T | NP_001116079.1:p.Thr121= | |
| NM_001754.4:c.444C>T , LRG_482t1:c.444C>T | NP_001745.2:p.Thr148= | |
| XM_005261068.3:c.408C>T | XP_005261125.1:p.Thr136= | |
| XM_005261069.3:c.444C>T | XP_005261126.1:p.Thr148= | |
| XM_011529766.1:c.444C>T | XP_011528068.1:p.Thr148= | |
| XM_011529767.1:c.405C>T | XP_011528069.1:p.Thr135= | |
| XM_011529768.1:c.405C>T | XP_011528070.1:p.Thr135= | |
| XM_011529770.1:c.444C>T | XP_011528072.1:p.Thr148= | |
| XR_937576.1:n.623C>T | ||
| XM_005261069.4:c.444C>T | XP_005261126.1:p.Thr148= | |
| XM_011529766.2:c.444C>T | XP_011528068.1:p.Thr148= | |
| XM_011529767.2:c.405C>T | XP_011528069.1:p.Thr135= | |
| XM_011529768.2:c.405C>T | XP_011528070.1:p.Thr135= | |
| XM_011529770.2:c.444C>T | XP_011528072.1:p.Thr148= | |
| XM_017028487.1:c.291C>T | XP_016883976.1:p.Thr97= | |
| XR_937576.2:n.670C>T | ||
| NM_001001890.3:c.363C>T | NP_001001890.1:p.Thr121= | |
| NM_001122607.2:c.363C>T | NP_001116079.1:p.Thr121= | |
| NM_001754.5:c.444C>T MANE Select | NP_001745.2:p.Thr148= |