Linked Data
ClinVar Variation Id:
464002
dbSNP Id:
rs749430925
ExAC:
21:36265254 A / T
gnomAD v2:
21-36265254-A-T
gnomAD v3:
21-34892957-A-T
gnomAD v4:
21-34892957-A-T
ERepo:
CA10014634/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34892957A>T , CM000683.2:g.34892957A>T | GRCh38 |
| NC_000021.8:g.36265254A>T , CM000683.1:g.36265254A>T | GRCh37 |
| NC_000021.7:g.35187124A>T | NCBI36 |
| NG_011402.2:g.1096755T>A , LRG_482:g.1096755T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.65T>A MANE Select | ENSP00000501943.1:p.Ile22Lys | |
| ENST00000300305.7:c.65T>A | ENSP00000300305.3:p.Ile22Lys | |
| ENST00000416754.1:c.65T>A | ENSP00000405158.1:p.Ile22Lys | |
| ENST00000437180.5:c.65T>A | ENSP00000409227.1:p.Ile22Lys | |
| ENST00000455571.5:c.59-5861T>A | ENSP00000388189.1:n.59-5861T>A | |
| ENST00000475045.6:c.65T>A | ENSP00000477072.1:p.Ile22Lys | |
| ENST00000482318.5:c.59-12244T>A | ENSP00000477067.1:n.59-12244T>A | |
| NM_001754.4:c.65T>A , LRG_482t1:c.65T>A | NP_001745.2:p.Ile22Lys | |
| XM_005261069.3:c.65T>A | XP_005261126.1:p.Ile22Lys | |
| XM_011529766.1:c.65T>A | XP_011528068.1:p.Ile22Lys | |
| XM_011529767.1:c.59-5861T>A | XP_011528069.1:n.59-5861T>A | |
| XM_011529768.1:c.59-5861T>A | XP_011528070.1:n.59-5861T>A | |
| XM_011529770.1:c.65T>A | XP_011528072.1:p.Ile22Lys | |
| XR_937576.1:n.244T>A | ||
| XM_005261069.4:c.65T>A | XP_005261126.1:p.Ile22Lys | |
| XM_011529766.2:c.65T>A | XP_011528068.1:p.Ile22Lys | |
| XM_011529767.2:c.59-5861T>A | XP_011528069.1:n.59-5861T>A | |
| XM_011529768.2:c.59-5861T>A | XP_011528070.1:n.59-5861T>A | |
| XM_011529770.2:c.65T>A | XP_011528072.1:p.Ile22Lys | |
| XR_937576.2:n.291T>A | ||
| NM_001754.5:c.65T>A MANE Select | NP_001745.2:p.Ile22Lys |