别名

ASN550LYS,N549K,RS121913476
Allele Registry ID:CA16602614
ClinVar ID:376157

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
10123258034123258034AT
Transcript
ENST00000457416.2

基因序列

NC_000010.10:g.123258034A>003eT
NM_022970.3:c.1650T>003eA
NP_075259.4:p.Asn550Lys
ENST00000457416.2:c.1650T>003eA