HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68429788G= , CM000663.2:g.68429788G= | GRCh38 |
NC_000001.10:g.68895471G= , CM000663.1:g.68895471G= | GRCh37 |
NC_000001.9:g.68668059G= | NCBI36 |
NG_008472.1:g.25172C= | |
NG_008472.2:g.25172C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1590C= MANE Select | ENSP00000262340.5:p.Phe530= | |
ENST00000262340.5:c.1590C= | ENSP00000262340.5:p.Phe530= | |
NM_000329.2:c.1590C= | NP_000320.1:p.Phe530= | |
XM_017002027.1:c.1314C= | XP_016857516.1:p.Phe438= | |
NM_000329.3:c.1590C= MANE Select | NP_000320.1:p.Phe530= |