VHL E46* (c.136G>003eT)


别名

GLU46TER,E46X,C.136G>003eT
Allele Registry ID:CA351748085
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
31018366710183667GT
Transcript
ENST00000256474.2

基因序列

ENST00000256474.2:c.136G>003eT
NC_000003.11:g.10183667G>003eT
NM_000551.3:c.136G>003eT
NP_000542.1:p.Glu46Ter