HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6718353C= , CM000681.2:g.6718353C= | GRCh38 |
NC_000019.9:g.6718364C= , CM000681.1:g.6718364C= | GRCh37 |
NC_000019.8:g.6669364C= | NCBI36 |
NG_009557.1:g.7299G= , LRG_27:g.7299G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000594936.2:n.388G= | ||
ENST00000695652.1:c.204G= | ENSP00000512083.1:p.Gln68= | |
ENST00000695693.1:c.327G= | ENSP00000512104.1:p.Gln109= | |
ENST00000245907.11:c.327G= MANE Select | ENSP00000245907.4:p.Gln109= | |
ENST00000245907.10:c.327G= | ENSP00000245907.4:p.Gln109= | |
ENST00000594936.1:n.388G= | ||
ENST00000600744.1:c.204G= | ENSP00000472044.1:p.Gln68= | |
NM_000064.3:c.327G= | NP_000055.2:p.Gln109= | |
NM_000064.4:c.327G= MANE Select | NP_000055.2:p.Gln109= |