Linked Data
ClinVar Variation Id:
1701951
ClinVar RCV Id:
RCV002277735
dbSNP Id:
rs2146409992
gnomAD v4:
21-34886927-C-T
MyVariant Identifiers:
chr21:g.36259224C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34886927C>T , CM000683.2:g.34886927C>T | GRCh38 |
| NC_000021.8:g.36259224C>T , CM000683.1:g.36259224C>T | GRCh37 |
| NC_000021.7:g.35181094C>T | NCBI36 |
| NG_011402.2:g.1102785G>A , LRG_482:g.1102785G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.267G>A MANE Select | ENSP00000501943.1:p.Leu89= | |
| ENST00000300305.7:c.267G>A | ENSP00000300305.3:p.Leu89= | |
| ENST00000344691.8:c.186G>A | ENSP00000340690.4:p.Leu62= | |
| ENST00000358356.9:c.186G>A | ENSP00000351123.5:p.Leu62= | |
| ENST00000399237.6:c.231G>A | ENSP00000382182.2:p.Leu77= | |
| ENST00000399240.5:c.186G>A | ENSP00000382184.1:p.Leu62= | |
| ENST00000437180.5:c.267G>A | ENSP00000409227.1:p.Leu89= | |
| ENST00000455571.5:c.228G>A | ENSP00000388189.1:p.Leu76= | |
| ENST00000482318.5:c.59-6214G>A | ENSP00000477067.1:n.59-6214G>A | |
| NM_001001890.2:c.186G>A | NP_001001890.1:p.Leu62= | |
| NM_001122607.1:c.186G>A | NP_001116079.1:p.Leu62= | |
| NM_001754.4:c.267G>A , LRG_482t1:c.267G>A | NP_001745.2:p.Leu89= | |
| XM_005261068.3:c.231G>A | XP_005261125.1:p.Leu77= | |
| XM_005261069.3:c.267G>A | XP_005261126.1:p.Leu89= | |
| XM_011529766.1:c.267G>A | XP_011528068.1:p.Leu89= | |
| XM_011529767.1:c.228G>A | XP_011528069.1:p.Leu76= | |
| XM_011529768.1:c.228G>A | XP_011528070.1:p.Leu76= | |
| XM_011529770.1:c.267G>A | XP_011528072.1:p.Leu89= | |
| XR_937576.1:n.446G>A | ||
| XM_005261069.4:c.267G>A | XP_005261126.1:p.Leu89= | |
| XM_011529766.2:c.267G>A | XP_011528068.1:p.Leu89= | |
| XM_011529767.2:c.228G>A | XP_011528069.1:p.Leu76= | |
| XM_011529768.2:c.228G>A | XP_011528070.1:p.Leu76= | |
| XM_011529770.2:c.267G>A | XP_011528072.1:p.Leu89= | |
| XM_017028487.1:c.114G>A | XP_016883976.1:p.Leu38= | |
| XR_937576.2:n.493G>A | ||
| NM_001001890.3:c.186G>A | NP_001001890.1:p.Leu62= | |
| NM_001122607.2:c.186G>A | NP_001116079.1:p.Leu62= | |
| NM_001754.5:c.267G>A MANE Select | NP_001745.2:p.Leu89= |