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