VHL K196* (c.586A>003eT)


别名

C.586A>003eT,K196X,LYS196TER,RS281860296
Allele Registry ID:CA020507
ClinVar ID:196284

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
31019159310191593AT
Transcript
ENST00000256474.2

基因序列

NM_000551.3:c.586A>003eT
NP_000542.1:p.Lys196Ter
NC_000003.11:g.10191593A>003eT
ENST00000256474.2:c.586A>003eT