HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33068607A= , CM000668.2:g.33068607A= | GRCh38 |
NC_000006.11:g.33036384A= , CM000668.1:g.33036384A= | GRCh37 |
NC_000006.10:g.33144362A= | NCBI36 |
NG_033241.1:g.17172T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000692443.1:c.*12+31T= MANE Select | ENSP00000509163.1:n.*12+31T= | |
ENST00000419277.5:c.*12+31T= | ENSP00000393566.1:n.*12+31T= | |
ENST00000437811.1:c.428T= | ||
ENST00000479107.1:n.1425T= | ||
NM_001242524.1:c.*12+31T= | NP_001229453.1:n.*12+31T= | |
NM_001242525.1:c.*12+31T= | NP_001229454.1:n.*12+31T= | |
NM_033554.3:c.*12+31T= | NP_291032.2:n.*12+31T= | |
XM_011514559.1:c.628+412T= | XP_011512861.1:n.628+412T= | |
NM_001242524.2:c.*12+31T= | NP_001229453.1:n.*12+31T= | |
NM_001242525.2:c.*12+31T= | NP_001229454.1:n.*12+31T= |