HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154189C= , CM000681.2:g.55154189C= | GRCh38 |
NC_000019.9:g.55665557C= , CM000681.1:g.55665557C= | GRCh37 |
NC_000019.8:g.60357369C= | NCBI36 |
NG_007866.2:g.8544G= , LRG_432:g.8544G= | |
NG_011829.2:g.50G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.390G= MANE Select | ENSP00000341838.5:p.Gln130= | |
ENST00000665070.1:c.423G= | ENSP00000499482.1:p.Gln141= | |
ENST00000344887.9:c.390G= | ENSP00000341838.5:p.Gln130= | |
ENST00000585806.5:n.389G= | ||
ENST00000586669.5:n.398G= | ||
ENST00000588882.1:c.315G= | ENSP00000466729.1:p.Gln105= | |
ENST00000589864.1:n.218G= | ||
NM_000363.4:c.390G= , LRG_432t1:c.390G= | NP_000354.4:p.Gln130= | |
NM_000363.5:c.390G= MANE Select | NP_000354.4:p.Gln130= |