HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612210T>A , CM000679.2:g.41612210T>A | GRCh38 |
NC_000017.10:g.39768462T>A , CM000679.1:g.39768462T>A | GRCh37 |
NC_000017.9:g.37021988T>A | NCBI36 |
NG_008301.1:g.5618A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.479A>T MANE Select | ENSP00000301653.3:p.Glu160Val | |
ENST00000301653.8:c.479A>T | ENSP00000301653.3:p.Glu160Val | |
ENST00000588319.1:n.556A>T | ||
ENST00000593067.1:c.-236A>T | ENSP00000467124.1:n.-236A>T | |
NM_005557.3:c.479A>T | NP_005548.2:p.Glu160Val | |
NM_005557.4:c.479A>T MANE Select | NP_005548.2:p.Glu160Val |