HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154769T>A , CM000681.2:g.55154769T>A | GRCh38 |
NC_000019.9:g.55666137T>A , CM000681.1:g.55666137T>A | GRCh37 |
NC_000019.8:g.60357949T>A | NCBI36 |
NG_007866.2:g.7964A>T , LRG_432:g.7964A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.344A>T MANE Select | ENSP00000341838.5:p.Glu115Val | |
ENST00000665070.1:c.344A>T | ENSP00000499482.1:p.Glu115Val | |
ENST00000344887.9:c.344A>T | ENSP00000341838.5:p.Glu115Val | |
ENST00000585806.5:n.343A>T | ||
ENST00000586669.5:n.352A>T | ||
ENST00000587176.5:n.528A>T | ||
ENST00000587871.1:c.963A>T | ||
ENST00000588882.1:c.269A>T | ENSP00000466729.1:p.Glu90Val | |
ENST00000590463.1:n.516A>T | ||
NM_000363.4:c.344A>T , LRG_432t1:c.344A>T | NP_000354.4:p.Glu115Val | |
NM_000363.5:c.344A>T MANE Select | NP_000354.4:p.Glu115Val |