HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33068621C= , CM000668.2:g.33068621C= | GRCh38 |
NC_000006.11:g.33036398C= , CM000668.1:g.33036398C= | GRCh37 |
NC_000006.10:g.33144376C= | NCBI36 |
NG_033241.1:g.17158G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000692443.1:c.*12+17G= MANE Select | ENSP00000509163.1:n.*12+17G= | |
ENST00000419277.5:c.*12+17G= | ENSP00000393566.1:n.*12+17G= | |
ENST00000437811.1:c.414G= | ||
ENST00000479107.1:n.1411G= | ||
NM_001242524.1:c.*12+17G= | NP_001229453.1:n.*12+17G= | |
NM_001242525.1:c.*12+17G= | NP_001229454.1:n.*12+17G= | |
NM_033554.3:c.*12+17G= | NP_291032.2:n.*12+17G= | |
XM_011514559.1:c.628+398G= | XP_011512861.1:n.628+398G= | |
NM_001242524.2:c.*12+17G= | NP_001229453.1:n.*12+17G= | |
NM_001242525.2:c.*12+17G= | NP_001229454.1:n.*12+17G= |