HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154127G>A , CM000681.2:g.55154127G>A | GRCh38 |
NC_000019.9:g.55665495G>A , CM000681.1:g.55665495G>A | GRCh37 |
NC_000019.8:g.60357307G>A | NCBI36 |
NG_007866.2:g.8606C>T , LRG_432:g.8606C>T | |
NG_011829.2:g.112C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.452C>T MANE Select | ENSP00000341838.5:p.Ala151Val | |
ENST00000665070.1:c.485C>T | ENSP00000499482.1:p.Ala162Val | |
ENST00000344887.9:c.452C>T | ENSP00000341838.5:p.Ala151Val | |
ENST00000585806.5:n.451C>T | ||
ENST00000586669.5:n.460C>T | ||
ENST00000588882.1:c.377C>T | ENSP00000466729.1:p.Ala126Val | |
ENST00000589864.1:n.280C>T | ||
NM_000363.4:c.452C>T , LRG_432t1:c.452C>T | NP_000354.4:p.Ala151Val | |
NM_000363.5:c.452C>T MANE Select | NP_000354.4:p.Ala151Val |