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