别名

RS121913460,Y272F,TYR253PHE,TYR272PHE
Allele Registry ID:CA16602550
ClinVar ID:376089

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
9133738358133738358AT
Transcript
ENST00000318560.5

基因序列

ENST00000318560.5:c.758A>003eT
NM_005157.5:c.758A>003eT
NP_005148.2:p.Tyr253Phe
NC_000009.11:g.133738358A>003eT