HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5253198C= , CM000673.2:g.5253198C= | GRCh38 |
NC_000011.9:g.5274428C= , CM000673.1:g.5274428C= | GRCh37 |
NC_000011.8:g.5231004C= | NCBI36 |
NG_000007.3:g.44418G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000336906.6:c.*79G= MANE Select | ENSP00000338082.4:n.*79G= | |
ENST00000380252.6:c.*79G= | ENSP00000369602.2:n.*79G= | |
ENST00000642908.1:c.315+1094G= | ENSP00000495346.1:n.315+1094G= | |
ENST00000647543.1:c.378+145G= | ENSP00000496470.1:n.378+145G= | |
ENST00000380252.5:c.*79G= | ENSP00000369602.1:n.*79G= | |
ENST00000380259.6:c.*79G= | ENSP00000369609.2:n.*79G= | |
ENST00000620888.4:c.315+1094G= | ENSP00000479637.1:n.315+1094G= | |
NM_000184.2:c.*79G= | NP_000175.1:n.*79G= | |
NM_000184.3:c.*79G= MANE Select | NP_000175.1:n.*79G= |