Linked Data
ClinVar Variation Id:
854013
ClinVar RCV Id:
RCV001058954
dbSNP Id:
rs774629580
gnomAD v4:
21-34792544-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792544G>T , CM000683.2:g.34792544G>T | GRCh38 |
| NC_000021.8:g.36164841G>T , CM000683.1:g.36164841G>T | GRCh37 |
| NC_000021.7:g.35086711G>T | NCBI36 |
| NG_011402.2:g.1197168C>A , LRG_482:g.1197168C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1034C>A MANE Select | ENSP00000501943.1:p.Pro345His | |
| ENST00000300305.7:c.1034C>A | ENSP00000300305.3:p.Pro345His | |
| ENST00000344691.8:c.953C>A | ENSP00000340690.4:p.Pro318His | |
| ENST00000399240.5:c.761C>A | ENSP00000382184.1:p.Pro254His | |
| ENST00000437180.5:c.1034C>A | ENSP00000409227.1:p.Pro345His | |
| ENST00000482318.5:c.*624C>A | ENSP00000477067.1:n.*624C>A | |
| NM_001001890.2:c.953C>A | NP_001001890.1:p.Pro318His | |
| NM_001754.4:c.1034C>A , LRG_482t1:c.1034C>A | NP_001745.2:p.Pro345His | |
| XM_005261068.3:c.998C>A | XP_005261125.1:p.Pro333His | |
| XM_005261069.3:c.842C>A | XP_005261126.1:p.Pro281His | |
| XM_011529766.1:c.1034C>A | XP_011528068.1:p.Pro345His | |
| XM_011529767.1:c.995C>A | XP_011528069.1:p.Pro332His | |
| XM_011529768.1:c.803C>A | XP_011528070.1:p.Pro268His | |
| XR_937576.1:n.4638C>A | ||
| XM_005261069.4:c.842C>A | XP_005261126.1:p.Pro281His | |
| XM_011529766.2:c.1034C>A | XP_011528068.1:p.Pro345His | |
| XM_011529767.2:c.995C>A | XP_011528069.1:p.Pro332His | |
| XM_011529768.2:c.803C>A | XP_011528070.1:p.Pro268His | |
| XM_017028487.1:c.881C>A | XP_016883976.1:p.Pro294His | |
| XR_937576.2:n.4685C>A | ||
| NM_001001890.3:c.953C>A | NP_001001890.1:p.Pro318His | |
| NM_001754.5:c.1034C>A MANE Select | NP_001745.2:p.Pro345His |