Linked Data
ClinVar Variation Id:
463999
ClinVar RCV Id:
RCV000558672
dbSNP Id:
rs777320434
ExAC:
21:36206889 T / A
gnomAD v2:
21-36206889-T-A
gnomAD v3:
21-34834592-T-A
gnomAD v4:
21-34834592-T-A
ERepo:
CA10014390/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34834592T>A , CM000683.2:g.34834592T>A | GRCh38 |
| NC_000021.8:g.36206889T>A , CM000683.1:g.36206889T>A | GRCh37 |
| NC_000021.7:g.35128759T>A | NCBI36 |
| NG_011402.2:g.1155120A>T , LRG_482:g.1155120A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.623A>T MANE Select | ENSP00000501943.1:p.Gln208Leu | |
| ENST00000300305.7:c.623A>T | ENSP00000300305.3:p.Gln208Leu | |
| ENST00000344691.8:c.542A>T | ENSP00000340690.4:p.Gln181Leu | |
| ENST00000358356.9:c.542A>T | ENSP00000351123.5:p.Gln181Leu | |
| ENST00000399237.6:c.587A>T | ENSP00000382182.2:p.Gln196Leu | |
| ENST00000399240.5:c.532+24882A>T | ENSP00000382184.1:n.532+24882A>T | |
| ENST00000437180.5:c.623A>T | ENSP00000409227.1:p.Gln208Leu | |
| ENST00000469087.1:n.159A>T | ||
| ENST00000482318.5:c.*213A>T | ENSP00000477067.1:n.*213A>T | |
| NM_001001890.2:c.542A>T | NP_001001890.1:p.Gln181Leu | |
| NM_001122607.1:c.542A>T | NP_001116079.1:p.Gln181Leu | |
| NM_001754.4:c.623A>T , LRG_482t1:c.623A>T | NP_001745.2:p.Gln208Leu | |
| XM_005261068.3:c.587A>T | XP_005261125.1:p.Gln196Leu | |
| XM_005261069.3:c.613+24882A>T | XP_005261126.1:n.613+24882A>T | |
| XM_011529766.1:c.623A>T | XP_011528068.1:p.Gln208Leu | |
| XM_011529767.1:c.584A>T | XP_011528069.1:p.Gln195Leu | |
| XM_011529768.1:c.574+24882A>T | XP_011528070.1:n.574+24882A>T | |
| XM_011529770.1:c.623A>T | XP_011528072.1:p.Gln208Leu | |
| XR_937576.1:n.802A>T | ||
| XM_005261069.4:c.613+24882A>T | XP_005261126.1:n.613+24882A>T | |
| XM_011529766.2:c.623A>T | XP_011528068.1:p.Gln208Leu | |
| XM_011529767.2:c.584A>T | XP_011528069.1:p.Gln195Leu | |
| XM_011529768.2:c.574+24882A>T | XP_011528070.1:n.574+24882A>T | |
| XM_011529770.2:c.623A>T | XP_011528072.1:p.Gln208Leu | |
| XM_017028487.1:c.470A>T | XP_016883976.1:p.Gln157Leu | |
| XR_937576.2:n.849A>T | ||
| NM_001001890.3:c.542A>T | NP_001001890.1:p.Gln181Leu | |
| NM_001122607.2:c.542A>T | NP_001116079.1:p.Gln181Leu | |
| NM_001754.5:c.623A>T MANE Select | NP_001745.2:p.Gln208Leu |