HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154079A>T , CM000681.2:g.55154079A>T | GRCh38 |
NC_000019.9:g.55665447A>T , CM000681.1:g.55665447A>T | GRCh37 |
NC_000019.8:g.60357259A>T | NCBI36 |
NG_007866.2:g.8654T>A , LRG_432:g.8654T>A | |
NG_011829.2:g.160T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.500T>A MANE Select | ENSP00000341838.5:p.Leu167Gln | |
ENST00000665070.1:c.533T>A | ENSP00000499482.1:p.Leu178Gln | |
ENST00000344887.9:c.500T>A | ENSP00000341838.5:p.Leu167Gln | |
ENST00000585806.5:n.499T>A | ||
ENST00000588882.1:c.425T>A | ENSP00000466729.1:p.Leu142Gln | |
ENST00000589864.1:n.328T>A | ||
NM_000363.4:c.500T>A , LRG_432t1:c.500T>A | NP_000354.4:p.Leu167Gln | |
NM_000363.5:c.500T>A MANE Select | NP_000354.4:p.Leu167Gln |