HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12718227T>A , CM000674.2:g.12718227T>A | GRCh38 |
NC_000012.11:g.12871161T>A , CM000674.1:g.12871161T>A | GRCh37 |
NC_000012.10:g.12762428T>A | NCBI36 |
NG_016341.1:g.5860T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.388T>A | ENSP00000507272.1:p.Leu130Met | |
ENST00000682620.1:n.1631-598T>A | ||
ENST00000684771.1:n.585-598T>A | ||
ENST00000228872.9:c.388T>A MANE Select | ENSP00000228872.4:p.Leu130Met | |
ENST00000228872.8:c.388T>A | ENSP00000228872.4:p.Leu130Met | |
ENST00000396340.1:c.388T>A | ENSP00000379629.1:p.Leu130Met | |
ENST00000442489.1:c.193+174T>A | ENSP00000407597.1:n.193+174T>A | |
ENST00000477087.1:n.155-598T>A | ||
NM_004064.4:c.388T>A | NP_004055.1:p.Leu130Met | |
NM_004064.5:c.388T>A MANE Select | NP_004055.1:p.Leu130Met |