HGVS | Genome Assembly |
---|---|
NC_000005.10:g.45645475G>A , CM000667.2:g.45645475G>A | GRCh38 |
NC_000005.9:g.45645577G>A , CM000667.1:g.45645577G>A | GRCh37 |
NC_000005.8:g.45681334G>A | NCBI36 |
NG_042183.1:g.55644C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303230.6:c.559C>T MANE Select | ENSP00000307342.4:p.Leu187= | |
ENST00000673735.1:c.559C>T | ENSP00000501107.1:p.Leu187= | |
ENST00000303230.5:c.559C>T | ENSP00000307342.4:p.Leu187= | |
ENST00000634658.1:c.559C>T | ENSP00000489134.1:p.Leu187= | |
NM_021072.3:c.559C>T | NP_066550.2:p.Leu187= | |
NM_021072.4:c.559C>T MANE Select | NP_066550.2:p.Leu187= |