Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154784T>A , CM000681.2:g.55154784T>A | GRCh38 |
| NC_000019.9:g.55666152T>A , CM000681.1:g.55666152T>A | GRCh37 |
| NC_000019.8:g.60357964T>A | NCBI36 |
| NG_007866.2:g.7949A>T , LRG_432:g.7949A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.329A>T MANE Select | ENSP00000341838.5:p.Glu110Val | |
| ENST00000665070.1:c.329A>T | ENSP00000499482.1:p.Glu110Val | |
| ENST00000344887.9:c.329A>T | ENSP00000341838.5:p.Glu110Val | |
| ENST00000585806.5:n.328A>T | ||
| ENST00000586669.5:n.337A>T | ||
| ENST00000587176.5:n.513A>T | ||
| ENST00000587871.1:c.948A>T | ||
| ENST00000588882.1:c.254A>T | ENSP00000466729.1:p.Glu85Val | |
| ENST00000590463.1:n.501A>T | ||
| NM_000363.4:c.329A>T , LRG_432t1:c.329A>T | NP_000354.4:p.Glu110Val | |
| NM_000363.5:c.329A>T MANE Select | NP_000354.4:p.Glu110Val |