Linked Data
ClinVar Variation Id:
538130
ClinVar RCV Id:
RCV000647308
dbSNP Id:
rs771586180
ExAC:
5:16477772 A / T
gnomAD v2:
5-16477772-A-T
gnomAD v4:
5-16477663-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.16477663A>T , CM000667.2:g.16477663A>T | GRCh38 |
| NC_000005.9:g.16477772A>T , CM000667.1:g.16477772A>T | GRCh37 |
| NC_000005.8:g.16530772A>T | NCBI36 |
| NG_016644.2:g.144347T>A , LRG_363:g.144347T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509977.2:n.647T>A | ||
| ENST00000510362.6:c.474T>A | ENSP00000425089.2:p.Asp158Glu | |
| ENST00000682033.1:c.127-2429T>A | ||
| ENST00000682142.1:c.696T>A | ENSP00000506804.1:p.Asp232Glu | |
| ENST00000682229.1:c.1155T>A | ENSP00000507342.1:p.Asp385Glu | |
| ENST00000682564.1:c.996T>A | ENSP00000508099.1:p.Asp332Glu | |
| ENST00000682628.1:c.474T>A | ENSP00000507536.1:p.Asp158Glu | |
| ENST00000682982.1:n.1773T>A | ||
| ENST00000683045.1:n.5543T>A | ||
| ENST00000683130.1:c.*245T>A | ENSP00000507709.1:n.*245T>A | |
| ENST00000683169.1:n.1498T>A | ||
| ENST00000683414.1:c.474T>A | ENSP00000508335.1:p.Asp158Glu | |
| ENST00000683527.1:c.*298T>A | ENSP00000507253.1:n.*298T>A | |
| ENST00000683539.1:c.474T>A | ENSP00000507466.1:p.Asp158Glu | |
| ENST00000684456.1:c.-70T>A | ENSP00000508060.1:n.-70T>A | |
| ENST00000684521.1:c.861T>A | ENSP00000507521.1:p.Asp287Glu | |
| ENST00000684695.1:n.3269T>A | ||
| ENST00000306320.10:c.999T>A MANE Select | ENSP00000304642.9:p.Asp333Glu | |
| ENST00000306320.9:c.999T>A | ENSP00000304642.9:p.Asp333Glu | |
| ENST00000399793.6:c.576T>A | ENSP00000382691.2:p.Asp192Glu | |
| ENST00000509977.1:n.635T>A | ||
| ENST00000510362.5:c.158T>A | ||
| NM_001034850.2:c.999T>A , LRG_363t1:c.999T>A | NP_001030022.1:p.Asp333Glu | |
| NM_019000.4:c.576T>A | NP_061873.2:p.Asp192Glu | |
| XM_011514053.1:c.1119T>A | XP_011512355.1:p.Asp373Glu | |
| XM_011514054.1:c.696T>A | XP_011512356.1:p.Asp232Glu | |
| XM_011514055.1:c.600T>A | XP_011512357.1:p.Asp200Glu | |
| XM_011514053.3:c.1119T>A | XP_011512355.1:p.Asp373Glu | |
| XM_011514054.2:c.696T>A | XP_011512356.1:p.Asp232Glu | |
| XM_011514055.3:c.600T>A | XP_011512357.1:p.Asp200Glu | |
| XM_024446117.1:c.474T>A | XP_024301885.1:p.Asp158Glu | |
| XM_024446118.1:c.474T>A | XP_024301886.1:p.Asp158Glu | |
| NM_001034850.3:c.999T>A MANE Select | NP_001030022.1:p.Asp333Glu | |
| NM_019000.5:c.576T>A | NP_061873.2:p.Asp192Glu |