HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154176G= , CM000681.2:g.55154176G= | GRCh38 |
NC_000019.9:g.55665544G= , CM000681.1:g.55665544G= | GRCh37 |
NC_000019.8:g.60357356G= | NCBI36 |
NG_007866.2:g.8557C= , LRG_432:g.8557C= | |
NG_011829.2:g.63C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.403C= MANE Select | ENSP00000341838.5:p.Leu135= | |
ENST00000665070.1:c.436C= | ENSP00000499482.1:p.Leu146= | |
ENST00000344887.9:c.403C= | ENSP00000341838.5:p.Leu135= | |
ENST00000585806.5:n.402C= | ||
ENST00000586669.5:n.411C= | ||
ENST00000588882.1:c.328C= | ENSP00000466729.1:p.Leu110= | |
ENST00000589864.1:n.231C= | ||
NM_000363.4:c.403C= , LRG_432t1:c.403C= | NP_000354.4:p.Leu135= | |
NM_000363.5:c.403C= MANE Select | NP_000354.4:p.Leu135= |