HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94981196A>G , CM000672.2:g.94981196A>G | GRCh38 |
NC_000010.10:g.96740953A>G , CM000672.1:g.96740953A>G | GRCh37 |
NC_000010.9:g.96730943A>G | NCBI36 |
NG_008385.1:g.47539A>G | |
NG_008385.2:g.48039A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.975A>G MANE Select | ENSP00000260682.6:p.Glu325= | |
ENST00000643112.1:c.833A>G | ENSP00000496202.1:p.Lys278Arg | |
ENST00000260682.6:c.975A>G | ENSP00000260682.6:p.Glu325= | |
NM_000771.3:c.975A>G | NP_000762.2:p.Glu325= | |
NM_000771.4:c.975A>G MANE Select | NP_000762.2:p.Glu325= |