HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988854G= , CM000672.2:g.94988854G= | GRCh38 |
NC_000010.10:g.96748611G= , CM000672.1:g.96748611G= | GRCh37 |
NC_000010.9:g.96738601G= | NCBI36 |
NG_008385.1:g.55197G= | |
NG_008385.2:g.55697G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.1299G= MANE Select | ENSP00000260682.6:p.Arg433= | |
ENST00000643112.1:c.*308G= | ENSP00000496202.1:n.*308G= | |
ENST00000260682.6:c.1299G= | ENSP00000260682.6:p.Arg433= | |
NM_000771.3:c.1299G= | NP_000762.2:p.Arg433= | |
NM_000771.4:c.1299G= MANE Select | NP_000762.2:p.Arg433= |