别名

RS121913286,GLN546LYS
Allele Registry ID:CA123338
ClinVar ID:13657

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
3178936094178936094CA
Transcript
ENST00000263967.3

基因序列

NM_006218.3:c.1636C>003eA
NP_006209.2:p.Gln546Lys
NC_000003.11:g.178936094C>003eA
ENST00000263967.3:c.1636C>003eA