HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154079A= , CM000681.2:g.55154079A= | GRCh38 |
NC_000019.9:g.55665447A= , CM000681.1:g.55665447A= | GRCh37 |
NC_000019.8:g.60357259A= | NCBI36 |
NG_007866.2:g.8654T= , LRG_432:g.8654T= | |
NG_011829.2:g.160T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.500T= MANE Select | ENSP00000341838.5:p.Leu167= | |
ENST00000665070.1:c.533T= | ENSP00000499482.1:p.Leu178= | |
ENST00000344887.9:c.500T= | ENSP00000341838.5:p.Leu167= | |
ENST00000585806.5:n.499T= | ||
ENST00000588882.1:c.425T= | ENSP00000466729.1:p.Leu142= | |
ENST00000589864.1:n.328T= | ||
NM_000363.4:c.500T= , LRG_432t1:c.500T= | NP_000354.4:p.Leu167= | |
NM_000363.5:c.500T= MANE Select | NP_000354.4:p.Leu167= |