Linked Data
ClinVar Variation Id:
934627
ClinVar RCV Id:
RCV001203054
dbSNP Id:
rs781761402
gnomAD v4:
21-34892925-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34892925C>A , CM000683.2:g.34892925C>A | GRCh38 |
| NC_000021.8:g.36265222C>A , CM000683.1:g.36265222C>A | GRCh37 |
| NC_000021.7:g.35187092C>A | NCBI36 |
| NG_011402.2:g.1096787G>T , LRG_482:g.1096787G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.97G>T MANE Select | ENSP00000501943.1:p.Asp33Tyr | |
| ENST00000300305.7:c.97G>T | ENSP00000300305.3:p.Asp33Tyr | |
| ENST00000416754.1:c.97G>T | ||
| ENST00000437180.5:c.97G>T | ENSP00000409227.1:p.Asp33Tyr | |
| ENST00000455571.5:c.59-5829G>T | ENSP00000388189.1:n.59-5829G>T | |
| ENST00000475045.6:c.97G>T | ENSP00000477072.1:p.Asp33Tyr | |
| ENST00000482318.5:c.59-12212G>T | ENSP00000477067.1:n.59-12212G>T | |
| NM_001754.4:c.97G>T , LRG_482t1:c.97G>T | NP_001745.2:p.Asp33Tyr | |
| XM_005261069.3:c.97G>T | XP_005261126.1:p.Asp33Tyr | |
| XM_011529766.1:c.97G>T | XP_011528068.1:p.Asp33Tyr | |
| XM_011529767.1:c.59-5829G>T | XP_011528069.1:n.59-5829G>T | |
| XM_011529768.1:c.59-5829G>T | XP_011528070.1:n.59-5829G>T | |
| XM_011529770.1:c.97G>T | XP_011528072.1:p.Asp33Tyr | |
| XR_937576.1:n.276G>T | ||
| XM_005261069.4:c.97G>T | XP_005261126.1:p.Asp33Tyr | |
| XM_011529766.2:c.97G>T | XP_011528068.1:p.Asp33Tyr | |
| XM_011529767.2:c.59-5829G>T | XP_011528069.1:n.59-5829G>T | |
| XM_011529768.2:c.59-5829G>T | XP_011528070.1:n.59-5829G>T | |
| XM_011529770.2:c.97G>T | XP_011528072.1:p.Asp33Tyr | |
| XR_937576.2:n.323G>T | ||
| NM_001754.5:c.97G>T MANE Select | NP_001745.2:p.Asp33Tyr |