别名

ALA2274THR,RS567060474
Allele Registry ID:CA298037
ClinVar ID:135776

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
11108196797108196797GA
Transcript
ENST00000278616.4

基因序列

NM_000051.3:c.6820G>003eA
NP_000042.3:p.Ala2274Thr
NC_000011.9:g.108196797G>003eA
ENST00000278616.4:c.6820G>003eA