HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86575936T>A , CM000670.2:g.86575936T>A | GRCh38 |
NC_000008.10:g.87588164T>A , CM000670.1:g.87588164T>A | GRCh37 |
NC_000008.9:g.87657280T>A | NCBI36 |
NG_016980.1:g.172740A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.2298A>T MANE Select | ENSP00000316605.5:p.Glu766Asp | |
ENST00000681546.1:n.2118A>T | ||
ENST00000681746.1:c.*709A>T | ENSP00000505959.1:n.*709A>T | |
ENST00000320005.5:c.2298A>T | ENSP00000316605.5:p.Glu766Asp | |
ENST00000517327.5:c.276+2753A>T | ENSP00000428329.1:n.276+2753A>T | |
NM_019098.4:c.2298A>T | NP_061971.3:p.Glu766Asp | |
XM_011517138.1:c.1884A>T | XP_011515440.1:p.Glu628Asp | |
XM_011517138.2:c.1884A>T | XP_011515440.1:p.Glu628Asp | |
NM_019098.5:c.2298A>T MANE Select | NP_061971.3:p.Glu766Asp |