别名

ALA681VAL,A440V,RS63750864
Allele Registry ID:CA008313
ClinVar ID:90011

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
33709044737090447CT
Transcript
ENST00000231790.2

基因序列

NM_000249.3:c.2042C>003eT
NP_000240.1:p.Ala681Val
ENST00000231790.2:c.2042C>003eT
NC_000003.11:g.37090447C>003eT