别名

CYS2488TYR,RS774281788
Allele Registry ID:CA196568
ClinVar ID:187037

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
11108201096108201096GA
Transcript
ENST00000278616.4

基因序列

NM_000051.3:c.7463G>003eA
NP_000042.3:p.Cys2488Tyr
NC_000011.9:g.108201096G>003eA
ENST00000278616.4:c.7463G>003eA