Linked Data
ClinVar Variation Id:
532656
ClinVar RCV Id:
RCV000639516
dbSNP Id:
rs1397164331
gnomAD v2:
21-36164821-C-T
gnomAD v4:
21-34792524-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792524C>T , CM000683.2:g.34792524C>T | GRCh38 |
| NC_000021.8:g.36164821C>T , CM000683.1:g.36164821C>T | GRCh37 |
| NC_000021.7:g.35086691C>T | NCBI36 |
| NG_011402.2:g.1197188G>A , LRG_482:g.1197188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1054G>A MANE Select | ENSP00000501943.1:p.Ala352Thr | |
| ENST00000300305.7:c.1054G>A | ENSP00000300305.3:p.Ala352Thr | |
| ENST00000344691.8:c.973G>A | ENSP00000340690.4:p.Ala325Thr | |
| ENST00000399240.5:c.781G>A | ENSP00000382184.1:p.Ala261Thr | |
| ENST00000437180.5:c.1054G>A | ENSP00000409227.1:p.Ala352Thr | |
| ENST00000482318.5:c.*644G>A | ENSP00000477067.1:n.*644G>A | |
| NM_001001890.2:c.973G>A | NP_001001890.1:p.Ala325Thr | |
| NM_001754.4:c.1054G>A , LRG_482t1:c.1054G>A | NP_001745.2:p.Ala352Thr | |
| XM_005261068.3:c.1018G>A | XP_005261125.1:p.Ala340Thr | |
| XM_005261069.3:c.862G>A | XP_005261126.1:p.Ala288Thr | |
| XM_011529766.1:c.1054G>A | XP_011528068.1:p.Ala352Thr | |
| XM_011529767.1:c.1015G>A | XP_011528069.1:p.Ala339Thr | |
| XM_011529768.1:c.823G>A | XP_011528070.1:p.Ala275Thr | |
| XM_005261069.4:c.862G>A | XP_005261126.1:p.Ala288Thr | |
| XM_011529766.2:c.1054G>A | XP_011528068.1:p.Ala352Thr | |
| XM_011529767.2:c.1015G>A | XP_011528069.1:p.Ala339Thr | |
| XM_011529768.2:c.823G>A | XP_011528070.1:p.Ala275Thr | |
| XM_017028487.1:c.901G>A | XP_016883976.1:p.Ala301Thr | |
| NM_001001890.3:c.973G>A | NP_001001890.1:p.Ala325Thr | |
| NM_001754.5:c.1054G>A MANE Select | NP_001745.2:p.Ala352Thr |