别名

ASP194GLU,RS786202134
Allele Registry ID:CA023096
ClinVar ID:185384

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
1912204891220489CA
Transcript
ENST00000326873.7

基因序列

NC_000019.9:g.1220489C>003eA
NM_000455.4:c.582C>003eA
NP_000446.1:p.Asp194Glu
ENST00000326873.7:c.582C>003eA