别名

TYR234CYS,Y102C,Y195C,RS587780073
Allele Registry ID:CA000337
ClinVar ID:127820

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
1775775807577580TC
Transcript
ENST00000269305.4

基因序列

NM_000546.5:c.701A>003eG
NP_000537.3:p.Tyr234Cys
NC_000017.10:g.7577580T>003eC
ENST00000269305.4:c.701A>003eG