Linked Data
ClinVar Variation Id:
239049
dbSNP Id:
rs200907577
ExAC:
21:36252870 G / A
gnomAD v2:
21-36252870-G-A
gnomAD v3:
21-34880573-G-A
gnomAD v4:
21-34880573-G-A
ERepo:
CA10014503/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34880573G>A , CM000683.2:g.34880573G>A | GRCh38 |
| NC_000021.8:g.36252870G>A , CM000683.1:g.36252870G>A | GRCh37 |
| NC_000021.7:g.35174740G>A | NCBI36 |
| NG_011402.2:g.1109139C>T , LRG_482:g.1109139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.492C>T MANE Select | ENSP00000501943.1:p.Val164= | |
| ENST00000300305.7:c.492C>T | ENSP00000300305.3:p.Val164= | |
| ENST00000344691.8:c.411C>T | ENSP00000340690.4:p.Val137= | |
| ENST00000358356.9:c.411C>T | ENSP00000351123.5:p.Val137= | |
| ENST00000399237.6:c.456C>T | ENSP00000382182.2:p.Val152= | |
| ENST00000399240.5:c.411C>T | ENSP00000382184.1:p.Val137= | |
| ENST00000437180.5:c.492C>T | ENSP00000409227.1:p.Val164= | |
| ENST00000482318.5:c.*82C>T | ENSP00000477067.1:n.*82C>T | |
| NM_001001890.2:c.411C>T | NP_001001890.1:p.Val137= | |
| NM_001122607.1:c.411C>T | NP_001116079.1:p.Val137= | |
| NM_001754.4:c.492C>T , LRG_482t1:c.492C>T | NP_001745.2:p.Val164= | |
| XM_005261068.3:c.456C>T | XP_005261125.1:p.Val152= | |
| XM_005261069.3:c.492C>T | XP_005261126.1:p.Val164= | |
| XM_011529766.1:c.492C>T | XP_011528068.1:p.Val164= | |
| XM_011529767.1:c.453C>T | XP_011528069.1:p.Val151= | |
| XM_011529768.1:c.453C>T | XP_011528070.1:p.Val151= | |
| XM_011529770.1:c.492C>T | XP_011528072.1:p.Val164= | |
| XR_937576.1:n.671C>T | ||
| XM_005261069.4:c.492C>T | XP_005261126.1:p.Val164= | |
| XM_011529766.2:c.492C>T | XP_011528068.1:p.Val164= | |
| XM_011529767.2:c.453C>T | XP_011528069.1:p.Val151= | |
| XM_011529768.2:c.453C>T | XP_011528070.1:p.Val151= | |
| XM_011529770.2:c.492C>T | XP_011528072.1:p.Val164= | |
| XM_017028487.1:c.339C>T | XP_016883976.1:p.Val113= | |
| XR_937576.2:n.718C>T | ||
| NM_001001890.3:c.411C>T | NP_001001890.1:p.Val137= | |
| NM_001122607.2:c.411C>T | NP_001116079.1:p.Val137= | |
| NM_001754.5:c.492C>T MANE Select | NP_001745.2:p.Val164= |