Linked Data
ClinVar Variation Id:
2874886
dbSNP Id:
rs886038488
gnomAD v4:
21-34792303-C-G
MyVariant Identifiers:
chr21:g.36164600C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792303C>G , CM000683.2:g.34792303C>G | GRCh38 |
| NC_000021.8:g.36164600C>G , CM000683.1:g.36164600C>G | GRCh37 |
| NC_000021.7:g.35086470C>G | NCBI36 |
| NG_011402.2:g.1197409G>C , LRG_482:g.1197409G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1275G>C MANE Select | ENSP00000501943.1:p.Pro425= | |
| ENST00000300305.7:c.1275G>C | ENSP00000300305.3:p.Pro425= | |
| ENST00000344691.8:c.1194G>C | ENSP00000340690.4:p.Pro398= | |
| ENST00000399240.5:c.1002G>C | ENSP00000382184.1:p.Pro334= | |
| ENST00000437180.5:c.1275G>C | ENSP00000409227.1:p.Pro425= | |
| ENST00000482318.5:c.*865G>C | ENSP00000477067.1:n.*865G>C | |
| NM_001001890.2:c.1194G>C | NP_001001890.1:p.Pro398= | |
| NM_001754.4:c.1275G>C , LRG_482t1:c.1275G>C | NP_001745.2:p.Pro425= | |
| XM_005261068.3:c.1239G>C | XP_005261125.1:p.Pro413= | |
| XM_005261069.3:c.1083G>C | XP_005261126.1:p.Pro361= | |
| XM_011529766.1:c.1275G>C | XP_011528068.1:p.Pro425= | |
| XM_011529767.1:c.1236G>C | XP_011528069.1:p.Pro412= | |
| XM_011529768.1:c.1044G>C | XP_011528070.1:p.Pro348= | |
| XM_005261069.4:c.1083G>C | XP_005261126.1:p.Pro361= | |
| XM_011529766.2:c.1275G>C | XP_011528068.1:p.Pro425= | |
| XM_011529767.2:c.1236G>C | XP_011528069.1:p.Pro412= | |
| XM_011529768.2:c.1044G>C | XP_011528070.1:p.Pro348= | |
| XM_017028487.1:c.1122G>C | XP_016883976.1:p.Pro374= | |
| NM_001001890.3:c.1194G>C | NP_001001890.1:p.Pro398= | |
| NM_001754.5:c.1275G>C MANE Select | NP_001745.2:p.Pro425= |