别名

RS121913528,ALA59THR
Allele Registry ID:CA122536
ClinVar ID:12581

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
122538028325380283CT
Transcript
ENST00000256078.4

基因序列

NM_004985.4:c.175G>003eA
NP_004976.2:p.Ala59Thr
NC_000012.11:g.25380283C>003eT
ENST00000256078.4:c.175G>003eA