HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154078C>A , CM000681.2:g.55154078C>A | GRCh38 |
NC_000019.9:g.55665446C>A , CM000681.1:g.55665446C>A | GRCh37 |
NC_000019.8:g.60357258C>A | NCBI36 |
NG_007866.2:g.8655G>T , LRG_432:g.8655G>T | |
NG_011829.2:g.161G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.501G>T MANE Select | ENSP00000341838.5:p.Leu167= | |
ENST00000665070.1:c.534G>T | ENSP00000499482.1:p.Leu178= | |
ENST00000344887.9:c.501G>T | ENSP00000341838.5:p.Leu167= | |
ENST00000585806.5:n.500G>T | ||
ENST00000588882.1:c.426G>T | ENSP00000466729.1:p.Leu142= | |
ENST00000589864.1:n.329G>T | ||
NM_000363.4:c.501G>T , LRG_432t1:c.501G>T | NP_000354.4:p.Leu167= | |
NM_000363.5:c.501G>T MANE Select | NP_000354.4:p.Leu167= |