HGVS | Genome Assembly |
---|---|
NC_000005.10:g.45461858T>A , CM000667.2:g.45461858T>A | GRCh38 |
NC_000005.9:g.45461960T>A , CM000667.1:g.45461960T>A | GRCh37 |
NC_000005.8:g.45497717T>A | NCBI36 |
NG_042183.1:g.239261A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303230.6:c.999A>T MANE Select | ENSP00000307342.4:p.Leu333Phe | |
ENST00000637305.1:n.162A>T | ||
ENST00000673735.1:c.999A>T | ENSP00000501107.1:p.Leu333Phe | |
ENST00000303230.5:c.999A>T | ENSP00000307342.4:p.Leu333Phe | |
NM_021072.3:c.999A>T | NP_066550.2:p.Leu333Phe | |
NM_021072.4:c.999A>T MANE Select | NP_066550.2:p.Leu333Phe |