HGVS | Genome Assembly |
---|---|
NC_000005.10:g.45461985A>C , CM000667.2:g.45461985A>C | GRCh38 |
NC_000005.9:g.45462087A>C , CM000667.1:g.45462087A>C | GRCh37 |
NC_000005.8:g.45497844A>C | NCBI36 |
NG_042183.1:g.239134T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303230.6:c.872T>G MANE Select | ENSP00000307342.4:p.Leu291Arg | |
ENST00000637305.1:n.35T>G | ||
ENST00000673735.1:c.872T>G | ENSP00000501107.1:p.Leu291Arg | |
ENST00000303230.5:c.872T>G | ENSP00000307342.4:p.Leu291Arg | |
NM_021072.3:c.872T>G | NP_066550.2:p.Leu291Arg | |
NM_021072.4:c.872T>G MANE Select | NP_066550.2:p.Leu291Arg |