HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862903C>A , CM000666.2:g.4862903C>A | GRCh38 |
NC_000004.11:g.4864630C>A , CM000666.1:g.4864630C>A | GRCh37 |
NC_000004.10:g.4915531C>A | NCBI36 |
NG_008121.1:g.8239C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.672C>A MANE Select | ENSP00000372170.4:p.Arg224= | |
ENST00000382723.4:c.672C>A | ENSP00000372170.4:p.Arg224= | |
ENST00000468421.1:n.384C>A | ||
NM_002448.3:c.672C>A MANE Select | NP_002439.2:p.Arg224= |