别名

RS121913527,ALA146THR
Allele Registry ID:CA245262
ClinVar ID:197243

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
122537856225378562CT
Transcript
ENST00000256078.4

基因序列

NM_004985.4:c.436G>003eA
NP_004976.2:p.Ala146Thr
NC_000012.11:g.25378562C>003eT
ENST00000256078.4:c.436G>003eA