HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33068755A>T , CM000668.2:g.33068755A>T | GRCh38 |
NC_000006.11:g.33036532A>T , CM000668.1:g.33036532A>T | GRCh37 |
NC_000006.10:g.33144510A>T | NCBI36 |
NG_033241.1:g.17024T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000692443.1:c.678T>A MANE Select | ENSP00000509163.1:p.Cys226Ter | |
ENST00000419277.5:c.678T>A | ENSP00000393566.1:p.Cys226Ter | |
ENST00000437811.1:c.280T>A | ||
ENST00000479107.1:n.1277T>A | ||
NM_001242524.1:c.678T>A | NP_001229453.1:p.Cys226Ter | |
NM_001242525.1:c.678T>A | NP_001229454.1:p.Cys226Ter | |
NM_033554.3:c.678T>A | NP_291032.2:p.Cys226Ter | |
XM_011514559.1:c.628+264T>A | XP_011512861.1:n.628+264T>A | |
NM_001242524.2:c.678T>A | NP_001229453.1:p.Cys226Ter | |
NM_001242525.2:c.678T>A | NP_001229454.1:p.Cys226Ter |