别名

ARG213PRO,R174P,R81P,RS587778720
Allele Registry ID:CA10580932
ClinVar ID:231214

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
1775782117578211CG
Transcript
ENST00000269305.4

基因序列

NM_000546.5:c.638G>003eC
NP_000537.3:p.Arg213Pro
NC_000017.10:g.7578211C>003eG
ENST00000269305.4:c.638G>003eC