Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154793A>T , CM000681.2:g.55154793A>T | GRCh38 |
| NC_000019.9:g.55666161A>T , CM000681.1:g.55666161A>T | GRCh37 |
| NC_000019.8:g.60357973A>T | NCBI36 |
| NG_007866.2:g.7940T>A , LRG_432:g.7940T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.320T>A MANE Select | ENSP00000341838.5:p.Val107Glu | |
| ENST00000665070.1:c.320T>A | ENSP00000499482.1:p.Val107Glu | |
| ENST00000344887.9:c.320T>A | ENSP00000341838.5:p.Val107Glu | |
| ENST00000585806.5:n.319T>A | ||
| ENST00000586669.5:n.328T>A | ||
| ENST00000587176.5:n.504T>A | ||
| ENST00000587871.1:c.939T>A | ||
| ENST00000588882.1:c.245T>A | ENSP00000466729.1:p.Val82Glu | |
| ENST00000590463.1:n.492T>A | ||
| NM_000363.4:c.320T>A , LRG_432t1:c.320T>A | NP_000354.4:p.Val107Glu | |
| NM_000363.5:c.320T>A MANE Select | NP_000354.4:p.Val107Glu |