别名

RS121913455,L267V,LEU248VAL
Allele Registry ID:CA16602546
ClinVar ID:376085

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
9133738342133738342CG
Transcript
ENST00000318560.5

基因序列

NM_005157.5:c.742C>003eG
NP_005148.2:p.Leu248Val
NC_000009.11:g.133738342C>003eG
ENST00000318560.5:c.742C>003eG