Linked Data
ClinVar Variation Id:
2119279
ClinVar RCV Id:
RCV003054577
dbSNP Id:
rs748235501
ExAC:
21:36252834 A / C
gnomAD v2:
21-36252834-A-C
gnomAD v4:
21-34880537-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34880537A>C , CM000683.2:g.34880537A>C | GRCh38 |
| NC_000021.8:g.36252834A>C , CM000683.1:g.36252834A>C | GRCh37 |
| NC_000021.7:g.35174704A>C | NCBI36 |
| NG_011402.2:g.1109175T>G , LRG_482:g.1109175T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.508+20T>G MANE Select | ENSP00000501943.1:n.508+20T>G | |
| ENST00000300305.7:c.508+20T>G | ENSP00000300305.3:n.508+20T>G | |
| ENST00000344691.8:c.427+20T>G | ENSP00000340690.4:n.427+20T>G | |
| ENST00000358356.9:c.427+20T>G | ENSP00000351123.5:n.427+20T>G | |
| ENST00000399237.6:c.472+20T>G | ENSP00000382182.2:n.472+20T>G | |
| ENST00000399240.5:c.427+20T>G | ENSP00000382184.1:n.427+20T>G | |
| ENST00000437180.5:c.508+20T>G | ENSP00000409227.1:n.508+20T>G | |
| ENST00000482318.5:c.*98+20T>G | ENSP00000477067.1:n.*98+20T>G | |
| NM_001001890.2:c.427+20T>G | NP_001001890.1:n.427+20T>G | |
| NM_001122607.1:c.427+20T>G | NP_001116079.1:n.427+20T>G | |
| NM_001754.4:c.508+20T>G , LRG_482t1:c.508+20T>G | NP_001745.2:n.508+20T>G | |
| XM_005261068.3:c.472+20T>G | XP_005261125.1:n.472+20T>G | |
| XM_005261069.3:c.508+20T>G | XP_005261126.1:n.508+20T>G | |
| XM_011529766.1:c.508+20T>G | XP_011528068.1:n.508+20T>G | |
| XM_011529767.1:c.469+20T>G | XP_011528069.1:n.469+20T>G | |
| XM_011529768.1:c.469+20T>G | XP_011528070.1:n.469+20T>G | |
| XM_011529770.1:c.508+20T>G | XP_011528072.1:n.508+20T>G | |
| XR_937576.1:n.687+20T>G | ||
| XM_005261069.4:c.508+20T>G | XP_005261126.1:n.508+20T>G | |
| XM_011529766.2:c.508+20T>G | XP_011528068.1:n.508+20T>G | |
| XM_011529767.2:c.469+20T>G | XP_011528069.1:n.469+20T>G | |
| XM_011529768.2:c.469+20T>G | XP_011528070.1:n.469+20T>G | |
| XM_011529770.2:c.508+20T>G | XP_011528072.1:n.508+20T>G | |
| XM_017028487.1:c.355+20T>G | XP_016883976.1:n.355+20T>G | |
| XR_937576.2:n.734+20T>G | ||
| NM_001001890.3:c.427+20T>G | NP_001001890.1:n.427+20T>G | |
| NM_001122607.2:c.427+20T>G | NP_001116079.1:n.427+20T>G | |
| NM_001754.5:c.508+20T>G MANE Select | NP_001745.2:n.508+20T>G |