HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862888G>A , CM000666.2:g.4862888G>A | GRCh38 |
NC_000004.11:g.4864615G>A , CM000666.1:g.4864615G>A | GRCh37 |
NC_000004.10:g.4915516G>A | NCBI36 |
NG_008121.1:g.8224G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.657G>A MANE Select | ENSP00000372170.4:p.Trp219Ter | |
ENST00000382723.4:c.657G>A | ENSP00000372170.4:p.Trp219Ter | |
ENST00000468421.1:n.369G>A | ||
NM_002448.3:c.657G>A MANE Select | NP_002439.2:p.Trp219Ter |