HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988927C>G , CM000672.2:g.94988927C>G | GRCh38 |
NC_000010.10:g.96748684C>G , CM000672.1:g.96748684C>G | GRCh37 |
NC_000010.9:g.96738674C>G | NCBI36 |
NG_008385.1:g.55270C>G | |
NG_008385.2:g.55770C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.1372C>G MANE Select | ENSP00000260682.6:p.Leu458Val | |
ENST00000643112.1:c.*381C>G | ENSP00000496202.1:n.*381C>G | |
ENST00000260682.6:c.1372C>G | ENSP00000260682.6:p.Leu458Val | |
NM_000771.3:c.1372C>G | NP_000762.2:p.Leu458Val | |
NM_000771.4:c.1372C>G MANE Select | NP_000762.2:p.Leu458Val |