HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68429828T>A , CM000663.2:g.68429828T>A | GRCh38 |
NC_000001.10:g.68895511T>A , CM000663.1:g.68895511T>A | GRCh37 |
NC_000001.9:g.68668099T>A | NCBI36 |
NG_008472.1:g.25132A>T | |
NG_008472.2:g.25132A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1550A>T MANE Select | ENSP00000262340.5:p.Glu517Val | |
ENST00000262340.5:c.1550A>T | ENSP00000262340.5:p.Glu517Val | |
NM_000329.2:c.1550A>T | NP_000320.1:p.Glu517Val | |
XM_017002027.1:c.1274A>T | XP_016857516.1:p.Glu425Val | |
NM_000329.3:c.1550A>T MANE Select | NP_000320.1:p.Glu517Val |