HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43928847C>A , CM000684.2:g.43928847C>A | GRCh38 |
NC_000022.10:g.44324727C>A , CM000684.1:g.44324727C>A | GRCh37 |
NC_000022.9:g.42656060C>A | NCBI36 |
NG_008631.1:g.10109C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216180.8:c.444C>A MANE Select | ENSP00000216180.3:p.Ile148= | |
ENST00000216180.7:c.444C>A | ENSP00000216180.3:p.Ile148= | |
ENST00000406117.6:c.*76C>A | ENSP00000384668.2:n.*76C>A | |
ENST00000423180.2:c.432C>A | ENSP00000397987.2:p.Ile144= | |
ENST00000478713.1:n.478C>A | ||
NM_025225.2:c.444C>A | NP_079501.2:p.Ile148= | |
NM_025225.3:c.444C>A MANE Select | NP_079501.2:p.Ile148= |