HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455794G>T , CM000679.2:g.7455794G>T | GRCh38 |
NC_000017.10:g.7359113G>T , CM000679.1:g.7359113G>T | GRCh37 |
NC_000017.9:g.7299837G>T | NCBI36 |
NG_008026.1:g.15708G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306071.7:c.1218G>T MANE Select | ENSP00000304290.2:p.Arg406Ser | |
ENST00000306071.6:c.1218G>T | ENSP00000304290.2:p.Arg406Ser | |
ENST00000536404.6:c.1002G>T | ENSP00000439209.2:p.Arg334Ser | |
ENST00000570557.5:c.881G>T | ||
ENST00000575379.1:c.-175G>T | ENSP00000461751.1:n.-175G>T | |
ENST00000576360.1:c.855G>T | ENSP00000459092.1:p.Arg285Ser | |
NM_000747.2:c.1218G>T | NP_000738.2:p.Arg406Ser | |
NM_000747.3:c.1218G>T MANE Select | NP_000738.2:p.Arg406Ser |