HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985968C= , CM000678.2:g.1985968C= | GRCh38 |
NC_000016.9:g.2035969C= , CM000678.1:g.2035969C= | GRCh37 |
NC_000016.8:g.1975970C= | NCBI36 |
NG_016288.1:g.6820C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.333C= | ENSP00000455885.1:p.Phe111= | |
ENST00000248114.7:c.558C= MANE Select | ENSP00000248114.6:p.Phe186= | |
ENST00000248114.6:c.558C= | ENSP00000248114.6:p.Phe186= | |
ENST00000565658.1:n.715C= | ||
ENST00000567719.1:c.333C= | ENSP00000455885.1:p.Phe111= | |
ENST00000569451.1:c.*31C= | ENSP00000456432.1:n.*31C= | |
NM_005262.2:c.558C= | NP_005253.3:p.Phe186= | |
NM_005262.3:c.558C= MANE Select | NP_005253.3:p.Phe186= |