Linked Data
ClinVar Variation Id:
1711954
ClinVar RCV Id:
RCV002293672
dbSNP Id:
rs775128266
gnomAD v4:
21-34799373-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34799373C>T , CM000683.2:g.34799373C>T | GRCh38 |
| NC_000021.8:g.36171670C>T , CM000683.1:g.36171670C>T | GRCh37 |
| NC_000021.7:g.35093540C>T | NCBI36 |
| NG_011402.2:g.1190339G>A , LRG_482:g.1190339G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.895G>A MANE Select | ENSP00000501943.1:p.Ala299Thr | |
| ENST00000300305.7:c.895G>A | ENSP00000300305.3:p.Ala299Thr | |
| ENST00000344691.8:c.814G>A | ENSP00000340690.4:p.Ala272Thr | |
| ENST00000399240.5:c.622G>A | ENSP00000382184.1:p.Ala208Thr | |
| ENST00000437180.5:c.895G>A | ENSP00000409227.1:p.Ala299Thr | |
| ENST00000482318.5:c.*485G>A | ENSP00000477067.1:n.*485G>A | |
| NM_001001890.2:c.814G>A | NP_001001890.1:p.Ala272Thr | |
| NM_001754.4:c.895G>A , LRG_482t1:c.895G>A | NP_001745.2:p.Ala299Thr | |
| XM_005261068.3:c.859G>A | XP_005261125.1:p.Ala287Thr | |
| XM_005261069.3:c.703G>A | XP_005261126.1:p.Ala235Thr | |
| XM_011529766.1:c.895G>A | XP_011528068.1:p.Ala299Thr | |
| XM_011529767.1:c.856G>A | XP_011528069.1:p.Ala286Thr | |
| XM_011529768.1:c.664G>A | XP_011528070.1:p.Ala222Thr | |
| XR_937576.1:n.1074G>A | ||
| XM_005261069.4:c.703G>A | XP_005261126.1:p.Ala235Thr | |
| XM_011529766.2:c.895G>A | XP_011528068.1:p.Ala299Thr | |
| XM_011529767.2:c.856G>A | XP_011528069.1:p.Ala286Thr | |
| XM_011529768.2:c.664G>A | XP_011528070.1:p.Ala222Thr | |
| XM_017028487.1:c.742G>A | XP_016883976.1:p.Ala248Thr | |
| XR_937576.2:n.1121G>A | ||
| NM_001001890.3:c.814G>A | NP_001001890.1:p.Ala272Thr | |
| NM_001754.5:c.895G>A MANE Select | NP_001745.2:p.Ala299Thr |