HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169492965G>A , CM000664.2:g.169492965G>A | GRCh38 |
NC_000002.11:g.170349475G>A , CM000664.1:g.170349475G>A | GRCh37 |
NC_000002.10:g.170057721G>A | NCBI36 |
NG_011567.1:g.18470G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295240.8:c.478G>A MANE Select | ENSP00000295240.3:p.Val160Ile | |
ENST00000295240.7:c.478G>A | ENSP00000295240.3:p.Val160Ile | |
ENST00000392663.6:c.478G>A | ENSP00000376431.2:p.Val160Ile | |
ENST00000443151.1:c.*200G>A | ENSP00000406182.1:n.*200G>A | |
ENST00000475571.1:n.445G>A | ||
ENST00000513963.1:c.478G>A | ENSP00000424363.1:p.Val160Ile | |
NM_152384.2:c.478G>A | NP_689597.1:p.Val160Ile | |
NM_152384.3:c.478G>A MANE Select | NP_689597.1:p.Val160Ile |