Linked Data
ClinVar Variation Id:
182587
ClinVar RCV Id:
RCV000203841
RCV000565478
RCV000708846
RCV000759828
RCV001354344
RCV001193897
RCV003467250
dbSNP Id:
rs730881772
ExAC:
2:47707982 C / A
gnomAD v2:
2-47707982-C-A
gnomAD v3:
2-47480843-C-A
gnomAD v4:
2-47480843-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47480843C>A , CM000664.2:g.47480843C>A | GRCh38 |
| NC_000002.11:g.47707982C>A , CM000664.1:g.47707982C>A | GRCh37 |
| NC_000002.10:g.47561486C>A | NCBI36 |
| NG_007110.2:g.82720C>A , LRG_218:g.82720C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2606C>A | ENSP00000495641.2:p.Ala869Glu | |
| ENST00000233146.7:c.2606C>A MANE Select | ENSP00000233146.2:p.Ala869Glu | |
| ENST00000543555.6:c.2408C>A | ENSP00000442697.1:p.Ala803Glu | |
| ENST00000644092.1:c.*906C>A | ENSP00000496351.1:n.*906C>A | |
| ENST00000644900.1:c.459C>A | ||
| ENST00000645339.1:c.2606C>A | ENSP00000496441.1:p.Ala869Glu | |
| ENST00000645506.1:c.2606C>A | ENSP00000495455.1:p.Ala869Glu | |
| ENST00000646415.1:c.2606C>A | ENSP00000495543.1:p.Ala869Glu | |
| ENST00000233146.6:c.2606C>A | ENSP00000233146.2:p.Ala869Glu | |
| ENST00000406134.5:c.2606C>A | ENSP00000384199.1:p.Ala869Glu | |
| ENST00000461394.5:n.47C>A | ||
| ENST00000543555.5:c.2408C>A | ENSP00000442697.1:p.Ala803Glu | |
| ENST00000610696.4:c.*1002C>A | ENSP00000483159.1:n.*1002C>A | |
| ENST00000613514.4:c.*1146C>A | ENSP00000484137.1:n.*1146C>A | |
| ENST00000617333.3:c.*1372C>A | ENSP00000482468.1:n.*1372C>A | |
| ENST00000617938.4:c.*1578C>A | ENSP00000481158.1:n.*1578C>A | |
| ENST00000621359.2:c.*172C>A | ENSP00000481416.1:n.*172C>A | |
| NM_000251.2:c.2606C>A , LRG_218t1:c.2606C>A | NP_000242.1:p.Ala869Glu | |
| NM_001258281.1:c.2408C>A | NP_001245210.1:p.Ala803Glu | |
| XM_005264332.2:c.2606C>A | XP_005264389.2:p.Ala869Glu | |
| XM_011532867.1:c.2606C>A | XP_011531169.1:p.Ala869Glu | |
| XR_939685.1:n.2678C>A | ||
| XM_005264332.4:c.2606C>A | XP_005264389.2:p.Ala869Glu | |
| XM_011532867.2:c.2606C>A | XP_011531169.1:p.Ala869Glu | |
| XR_001738747.2:n.2668C>A | ||
| XR_939685.2:n.2668C>A | ||
| NM_000251.3:c.2606C>A MANE Select | NP_000242.1:p.Ala869Glu |