VHL I180V (c.538A>003eG)


别名

C.538A>003eG,ILE180VAL,RS377715747
Allele Registry ID:CA020469
ClinVar ID:161401

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
31019154510191545AG
Transcript
ENST0

基因序列

NM_000551.3:c.538A>003eG
NP_000542.1:p.Ile180Val
NC_000003.11:g.10191545A>003eG
ENST00000256474.2:c.538A>003eG