别名

LYS83GLU,K110E,RS121912498
Allele Registry ID:CA248613
ClinVar ID:14465

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
213625916336259163TC
Transcript
ENST00000344691.4

基因序列

NC_000021.8:g.36259163T>003eC
NP_001001890.1:p.Lys83Glu
NM_001001890.2:c.247A>003eG
ENST00000344691.4:c.247A>003eG