VHL D126Y (c.376G>003eT)


别名

C.376G>003eT,ASP126TYR,RS104893831
Allele Registry ID:CA020319
ClinVar ID:2230

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
31018823310188233GT
Transcript
ENST00000256474.2

基因序列

NM_000551.3:c.376G>003eT
NP_000542.1:p.Asp126Tyr
NC_000003.11:g.10188233G>003eT
ENST00000256474.2:c.376G>003eT