HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455351C= , CM000679.2:g.7455351C= | GRCh38 |
NC_000017.10:g.7358670C= , CM000679.1:g.7358670C= | GRCh37 |
NC_000017.9:g.7299394C= | NCBI36 |
NG_008026.1:g.15265C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1112C= MANE Select | ENSP00000304290.2:p.Pro371= | |
ENST00000306071.6:c.1112C= | ENSP00000304290.2:p.Pro371= | |
ENST00000536404.6:c.896C= | ENSP00000439209.2:p.Pro299= | |
ENST00000570557.5:c.775C= | ||
ENST00000573209.1:n.2056C= | ||
ENST00000576360.1:c.749C= | ENSP00000459092.1:p.Pro250= | |
NM_000747.2:c.1112C= | NP_000738.2:p.Pro371= | |
NM_000747.3:c.1112C= MANE Select | NP_000738.2:p.Pro371= |