别名

ARG24CYS,RS11547328
Allele Registry ID:CA126982
ClinVar ID:16928

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
125814543158145431GA
Transcript
ENST00000257904.6

基因序列

NM_000075.3:c.70C>003eT
NP_000066.1:p.Arg24Cys
ENST00000257904.6:c.70C>003eT
NC_000012.11:g.58145431G>003eA