Linked Data
ClinVar Variation Id:
532669
ClinVar RCV Id:
RCV000639529
dbSNP Id:
rs756010562
ExAC:
21:36164869 A / T
gnomAD v2:
21-36164869-A-T
gnomAD v4:
21-34792572-A-T
ERepo:
CA10014222/MONDO:0011071/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792572A>T , CM000683.2:g.34792572A>T | GRCh38 |
| NC_000021.8:g.36164869A>T , CM000683.1:g.36164869A>T | GRCh37 |
| NC_000021.7:g.35086739A>T | NCBI36 |
| NG_011402.2:g.1197140T>A , LRG_482:g.1197140T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1006T>A MANE Select | ENSP00000501943.1:p.Phe336Ile | |
| ENST00000300305.7:c.1006T>A | ENSP00000300305.3:p.Phe336Ile | |
| ENST00000344691.8:c.925T>A | ENSP00000340690.4:p.Phe309Ile | |
| ENST00000399240.5:c.733T>A | ENSP00000382184.1:p.Phe245Ile | |
| ENST00000437180.5:c.1006T>A | ENSP00000409227.1:p.Phe336Ile | |
| ENST00000482318.5:c.*596T>A | ENSP00000477067.1:n.*596T>A | |
| NM_001001890.2:c.925T>A | NP_001001890.1:p.Phe309Ile | |
| NM_001754.4:c.1006T>A , LRG_482t1:c.1006T>A | NP_001745.2:p.Phe336Ile | |
| XM_005261068.3:c.970T>A | XP_005261125.1:p.Phe324Ile | |
| XM_005261069.3:c.814T>A | XP_005261126.1:p.Phe272Ile | |
| XM_011529766.1:c.1006T>A | XP_011528068.1:p.Phe336Ile | |
| XM_011529767.1:c.967T>A | XP_011528069.1:p.Phe323Ile | |
| XM_011529768.1:c.775T>A | XP_011528070.1:p.Phe259Ile | |
| XR_937576.1:n.4610T>A | ||
| XM_005261069.4:c.814T>A | XP_005261126.1:p.Phe272Ile | |
| XM_011529766.2:c.1006T>A | XP_011528068.1:p.Phe336Ile | |
| XM_011529767.2:c.967T>A | XP_011528069.1:p.Phe323Ile | |
| XM_011529768.2:c.775T>A | XP_011528070.1:p.Phe259Ile | |
| XM_017028487.1:c.853T>A | XP_016883976.1:p.Phe285Ile | |
| XR_937576.2:n.4657T>A | ||
| NM_001001890.3:c.925T>A | NP_001001890.1:p.Phe309Ile | |
| NM_001754.5:c.1006T>A MANE Select | NP_001745.2:p.Phe336Ile |