别名

RS121913279,HIS1047LEU
Allele Registry ID:CA123328
ClinVar ID:13653

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
3178952085178952085AT
Transcript
ENST00000263967.3

基因序列

NM_006218.3:c.3140A>003eT
NP_006209.2:p.His1047Leu
NC_000003.11:g.178952085A>003eT
ENST00000263967.3:c.3140A>003eT