Linked Data
ClinVar Variation Id:
2076125
ClinVar RCV Id:
RCV002979120
dbSNP Id:
rs1039736738
gnomAD v4:
21-34792610-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792610G>C , CM000683.2:g.34792610G>C | GRCh38 |
| NC_000021.8:g.36164907G>C , CM000683.1:g.36164907G>C | GRCh37 |
| NC_000021.7:g.35086777G>C | NCBI36 |
| NG_011402.2:g.1197102C>G , LRG_482:g.1197102C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.968C>G MANE Select | ENSP00000501943.1:p.Thr323Arg | |
| ENST00000300305.7:c.968C>G | ENSP00000300305.3:p.Thr323Arg | |
| ENST00000344691.8:c.887C>G | ENSP00000340690.4:p.Thr296Arg | |
| ENST00000399240.5:c.695C>G | ENSP00000382184.1:p.Thr232Arg | |
| ENST00000437180.5:c.968C>G | ENSP00000409227.1:p.Thr323Arg | |
| ENST00000482318.5:c.*558C>G | ENSP00000477067.1:n.*558C>G | |
| NM_001001890.2:c.887C>G | NP_001001890.1:p.Thr296Arg | |
| NM_001754.4:c.968C>G , LRG_482t1:c.968C>G | NP_001745.2:p.Thr323Arg | |
| XM_005261068.3:c.932C>G | XP_005261125.1:p.Thr311Arg | |
| XM_005261069.3:c.776C>G | XP_005261126.1:p.Thr259Arg | |
| XM_011529766.1:c.968C>G | XP_011528068.1:p.Thr323Arg | |
| XM_011529767.1:c.929C>G | XP_011528069.1:p.Thr310Arg | |
| XM_011529768.1:c.737C>G | XP_011528070.1:p.Thr246Arg | |
| XR_937576.1:n.4572C>G | ||
| XM_005261069.4:c.776C>G | XP_005261126.1:p.Thr259Arg | |
| XM_011529766.2:c.968C>G | XP_011528068.1:p.Thr323Arg | |
| XM_011529767.2:c.929C>G | XP_011528069.1:p.Thr310Arg | |
| XM_011529768.2:c.737C>G | XP_011528070.1:p.Thr246Arg | |
| XM_017028487.1:c.815C>G | XP_016883976.1:p.Thr272Arg | |
| XR_937576.2:n.4619C>G | ||
| NM_001001890.3:c.887C>G | NP_001001890.1:p.Thr296Arg | |
| NM_001754.5:c.968C>G MANE Select | NP_001745.2:p.Thr323Arg |