别名

RS121913281,HIS1047TYR
Allele Registry ID:CA130471
ClinVar ID:39705

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
3178952084178952084CT
Transcript
ENST00000263967.3

基因序列

NM_006218.3:c.3139C>003eT
NP_006209.2:p.His1047Tyr
NC_000003.11:g.178952084C>003eT
ENST00000263967.3:c.3139C>003eT