HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94981226G= , CM000672.2:g.94981226G= | GRCh38 |
NC_000010.10:g.96740983G= , CM000672.1:g.96740983G= | GRCh37 |
NC_000010.9:g.96730973G= | NCBI36 |
NG_008385.1:g.47569G= | |
NG_008385.2:g.48069G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.1005G= MANE Select | ENSP00000260682.6:p.Arg335= | |
ENST00000643112.1:c.*14G= | ENSP00000496202.1:n.*14G= | |
ENST00000260682.6:c.1005G= | ENSP00000260682.6:p.Arg335= | |
NM_000771.3:c.1005G= | NP_000762.2:p.Arg335= | |
NM_000771.4:c.1005G= MANE Select | NP_000762.2:p.Arg335= |