别名

ASP594ASN,RS397516896
Allele Registry ID:CA135095
ClinVar ID:44813

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
7140453155140453155CT
Transcript
ENST00000288602.6

基因序列

NM_004333.4:c.1780G>003eA
NP_004324.2:p.Asp594Asn
NC_000007.13:g.140453155C>003eT
ENST00000288602.6:c.1780G>003eA