HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33068753G>T , CM000668.2:g.33068753G>T | GRCh38 |
NC_000006.11:g.33036530G>T , CM000668.1:g.33036530G>T | GRCh37 |
NC_000006.10:g.33144508G>T | NCBI36 |
NG_033241.1:g.17026C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000692443.1:c.680C>A MANE Select | ENSP00000509163.1:p.Ala227Asp | |
ENST00000419277.5:c.680C>A | ENSP00000393566.1:p.Ala227Asp | |
ENST00000437811.1:c.282C>A | ||
ENST00000479107.1:n.1279C>A | ||
NM_001242524.1:c.680C>A | NP_001229453.1:p.Ala227Asp | |
NM_001242525.1:c.680C>A | NP_001229454.1:p.Ala227Asp | |
NM_033554.3:c.680C>A | NP_291032.2:p.Ala227Asp | |
XM_011514559.1:c.628+266C>A | XP_011512861.1:n.628+266C>A | |
NM_001242524.2:c.680C>A | NP_001229453.1:p.Ala227Asp | |
NM_001242525.2:c.680C>A | NP_001229454.1:p.Ala227Asp |