HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94981235C= , CM000672.2:g.94981235C= | GRCh38 |
NC_000010.10:g.96740992C= , CM000672.1:g.96740992C= | GRCh37 |
NC_000010.9:g.96730982C= | NCBI36 |
NG_008385.1:g.47578C= | |
NG_008385.2:g.48078C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.1014C= MANE Select | ENSP00000260682.6:p.Cys338= | |
ENST00000643112.1:c.*23C= | ENSP00000496202.1:n.*23C= | |
ENST00000260682.6:c.1014C= | ENSP00000260682.6:p.Cys338= | |
NM_000771.3:c.1014C= | NP_000762.2:p.Cys338= | |
NM_000771.4:c.1014C= MANE Select | NP_000762.2:p.Cys338= |