别名

R130X,ARG130TER,RS121909224
Allele Registry ID:CA000433
ClinVar ID:7819

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
108969290489692904CT
Transcript
ENST00000371953.3

基因序列

NM_000314.6:c.388C>003eT
NP_000305.3:p.Arg130Ter
ENST00000371953.3:c.388C>003eT
NC_000010.10:g.89692904C>003eT