别名

LEU597VAL,RS121913369
Allele Registry ID:CA123651
ClinVar ID:13969

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
7140453146140453146GC
Transcript
ENST00000288602.6

基因序列

NM_004333.4:c.1789C>003eG
NP_004324.2:p.Leu597Val
NC_000007.13:g.140453146G>003eC
ENST00000288602.6:c.1789C>003eG