HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154778T>A , CM000681.2:g.55154778T>A | GRCh38 |
NC_000019.9:g.55666146T>A , CM000681.1:g.55666146T>A | GRCh37 |
NC_000019.8:g.60357958T>A | NCBI36 |
NG_007866.2:g.7955A>T , LRG_432:g.7955A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.335A>T MANE Select | ENSP00000341838.5:p.Tyr112Phe | |
ENST00000665070.1:c.335A>T | ENSP00000499482.1:p.Tyr112Phe | |
ENST00000344887.9:c.335A>T | ENSP00000341838.5:p.Tyr112Phe | |
ENST00000585806.5:n.334A>T | ||
ENST00000586669.5:n.343A>T | ||
ENST00000587176.5:n.519A>T | ||
ENST00000587871.1:c.954A>T | ||
ENST00000588882.1:c.260A>T | ENSP00000466729.1:p.Tyr87Phe | |
ENST00000590463.1:n.507A>T | ||
NM_000363.4:c.335A>T , LRG_432t1:c.335A>T | NP_000354.4:p.Tyr112Phe | |
NM_000363.5:c.335A>T MANE Select | NP_000354.4:p.Tyr112Phe |