别名

PHE1245CYS,RS863225283
Allele Registry ID:CA279597
ClinVar ID:217856

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
22943685929436859AC
Transcript
ENST00000389048.3

基因序列

NM_004304.4:c.3734T>003eG
NP_004295.2:p.Phe1245Cys
NC_000002.11:g.29436859A>003eC
ENST00000389048.3:c.3734T>003eG