HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184059950C= , CM000665.2:g.184059950C= | GRCh38 |
NC_000003.11:g.183777738C= , CM000665.1:g.183777738C= | GRCh37 |
NC_000003.10:g.185260432C= | NCBI36 |
NG_012749.1:g.11904C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318351.2:c.1048C= MANE Select | ENSP00000322617.1:p.Leu350= | |
ENST00000318351.1:c.1048C= | ENSP00000322617.1:p.Leu350= | |
NM_130770.2:c.1048C= | NP_570126.2:p.Leu350= | |
NM_130770.3:c.1048C= MANE Select | NP_570126.2:p.Leu350= |