HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154072C= , CM000681.2:g.55154072C= | GRCh38 |
NC_000019.9:g.55665440C= , CM000681.1:g.55665440C= | GRCh37 |
NC_000019.8:g.60357252C= | NCBI36 |
NG_007866.2:g.8661G= , LRG_432:g.8661G= | |
NG_011829.2:g.167G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.507G= MANE Select | ENSP00000341838.5:p.Leu169= | |
ENST00000665070.1:c.540G= | ENSP00000499482.1:p.Leu180= | |
ENST00000344887.9:c.507G= | ENSP00000341838.5:p.Leu169= | |
ENST00000585806.5:n.506G= | ||
ENST00000588882.1:c.432G= | ENSP00000466729.1:p.Leu144= | |
ENST00000589864.1:n.335G= | ||
NM_000363.4:c.507G= , LRG_432t1:c.507G= | NP_000354.4:p.Leu169= | |
NM_000363.5:c.507G= MANE Select | NP_000354.4:p.Leu169= |