HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985905C= , CM000678.2:g.1985905C= | GRCh38 |
NC_000016.9:g.2035906C= , CM000678.1:g.2035906C= | GRCh37 |
NC_000016.8:g.1975907C= | NCBI36 |
NG_016288.1:g.6757C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.270C= | ENSP00000455885.1:p.Cys90= | |
ENST00000248114.7:c.495C= MANE Select | ENSP00000248114.6:p.Cys165= | |
ENST00000248114.6:c.495C= | ENSP00000248114.6:p.Cys165= | |
ENST00000565658.1:n.652C= | ||
ENST00000567719.1:c.270C= | ENSP00000455885.1:p.Cys90= | |
ENST00000569451.1:c.298C= | ENSP00000456432.1:p.Leu100= | |
NM_005262.2:c.495C= | NP_005253.3:p.Cys165= | |
NM_005262.3:c.495C= MANE Select | NP_005253.3:p.Cys165= |