HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24145570T>A , CM000668.2:g.24145570T>A | GRCh38 |
NC_000006.11:g.24145798T>A , CM000668.1:g.24145798T>A | GRCh37 |
NC_000006.10:g.24253777T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378491.9:c.212T>A MANE Select | ENSP00000367752.4:p.Val71Asp | |
ENST00000378477.2:c.212T>A | ENSP00000367738.2:p.Val71Asp | |
ENST00000378478.5:c.212T>A | ENSP00000367739.2:p.Val71Asp | |
ENST00000378491.8:c.212T>A | ENSP00000367752.4:p.Val71Asp | |
ENST00000468195.2:n.257-9201T>A | ||
NM_080723.4:c.212T>A | NP_542454.3:p.Val71Asp | |
NM_080723.5:c.212T>A MANE Select | NP_542454.3:p.Val71Asp |