HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94989174C>A , CM000672.2:g.94989174C>A | GRCh38 |
NC_000010.10:g.96748931C>A , CM000672.1:g.96748931C>A | GRCh37 |
NC_000010.9:g.96738921C>A | NCBI36 |
NG_008385.1:g.55517C>A | |
NG_008385.2:g.56017C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.*146C>A MANE Select | ENSP00000260682.6:n.*146C>A | |
ENST00000643112.1:c.*628C>A | ENSP00000496202.1:n.*628C>A | |
ENST00000260682.6:c.*146C>A | ENSP00000260682.6:n.*146C>A | |
NM_000771.3:c.*146C>A | NP_000762.2:n.*146C>A | |
NM_000771.4:c.*146C>A MANE Select | NP_000762.2:n.*146C>A |