HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151873C>A , CM000681.2:g.55151873C>A | GRCh38 |
NC_000019.9:g.55663241C>A , CM000681.1:g.55663241C>A | GRCh37 |
NC_000019.8:g.60355053C>A | NCBI36 |
NG_007866.2:g.10860G>T , LRG_432:g.10860G>T | |
NG_011829.2:g.2366G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.594G>T MANE Select | ENSP00000341838.5:p.Leu198= | |
ENST00000665070.1:c.627G>T | ENSP00000499482.1:p.Leu209= | |
ENST00000344887.9:c.594G>T | ENSP00000341838.5:p.Leu198= | |
ENST00000585806.5:n.593G>T | ||
ENST00000588882.1:c.519G>T | ENSP00000466729.1:p.Leu173= | |
ENST00000589864.1:n.422G>T | ||
NM_000363.4:c.594G>T , LRG_432t1:c.594G>T | NP_000354.4:p.Leu198= | |
NM_000363.5:c.594G>T MANE Select | NP_000354.4:p.Leu198= |