别名

R383X,ARG383TER,RS63749849
Allele Registry ID:CA017356
ClinVar ID:90554

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
24765695147656951CT
Transcript
ENST00000233146.2

基因序列

NM_000251.2:c.1147C>003eT
NP_000242.1:p.Arg383Ter
ENST00000233146.2:c.1147C>003eT
NC_000002.11:g.47656951C>003eT