HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94989085G>A , CM000672.2:g.94989085G>A | GRCh38 |
NC_000010.10:g.96748842G>A , CM000672.1:g.96748842G>A | GRCh37 |
NC_000010.9:g.96738832G>A | NCBI36 |
NG_008385.1:g.55428G>A | |
NG_008385.2:g.55928G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.*57G>A MANE Select | ENSP00000260682.6:n.*57G>A | |
ENST00000643112.1:c.*539G>A | ENSP00000496202.1:n.*539G>A | |
ENST00000260682.6:c.*57G>A | ENSP00000260682.6:n.*57G>A | |
NM_000771.3:c.*57G>A | NP_000762.2:n.*57G>A | |
NM_000771.4:c.*57G>A MANE Select | NP_000762.2:n.*57G>A |