HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100883251G= , CM000676.2:g.100883251G= | GRCh38 |
NC_000014.8:g.101349588G= , CM000676.1:g.101349588G= | GRCh37 |
NC_000014.7:g.100419341G= | NCBI36 |
NG_045001.1:g.6597C= | |
NG_045000.5:g.51983G= | |
NG_045000.6:g.51983G= | |
NG_045001.2:g.25472C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649591.1:c.1538C= MANE Select | ENSP00000497482.1:p.Ala513= | |
ENST00000534062.1:c.1538C= | ENSP00000435342.1:p.Ala513= | |
NM_001134888.2:c.1538C= | NP_001128360.1:p.Ala513= | |
NM_001134888.3:c.1538C= MANE Select | NP_001128360.1:p.Ala513= |