HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862888G>T , CM000666.2:g.4862888G>T | GRCh38 |
NC_000004.11:g.4864615G>T , CM000666.1:g.4864615G>T | GRCh37 |
NC_000004.10:g.4915516G>T | NCBI36 |
NG_008121.1:g.8224G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.657G>T MANE Select | ENSP00000372170.4:p.Trp219Cys | |
ENST00000382723.4:c.657G>T | ENSP00000372170.4:p.Trp219Cys | |
ENST00000468421.1:n.369G>T | ||
NM_002448.3:c.657G>T MANE Select | NP_002439.2:p.Trp219Cys |