别名

LEU597ARG,RS121913366
Allele Registry ID:CA123649
ClinVar ID:13968

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
7140453145140453145AC
Transcript
ENST00000288602.6

基因序列

NC_000007.13:g.140453145A>003eC
NM_004333.4:c.1790T>003eG
NP_004324.2:p.Leu597Arg
ENST00000288602.6:c.1790T>003eG