VHL Y175* (c.525C>003eG)


别名

C.525C>003eG,Y175X,TYR175TER,RS5030835
Allele Registry ID:CA020466
ClinVar ID:182974

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
31019153210191532CG
Transcript
ENST00000256474.2

基因序列

ENST00000256474.2:c.525C>003eG
NC_000003.11:g.10191532C>003eG
NM_000551.3:c.525C>003eG
NP_000542.1:p.Tyr175Ter