别名

K293X,LYS293TER,RS1057516442
Allele Registry ID:CA16041383
ClinVar ID:370378

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
11108115729108115729AT
Transcript
ENST00000278616.4

基因序列

ENST00000278616.4:c.877A>003eT
NM_000051.3:c.877A>003eT
NP_000042.3:p.Lys293Ter
NC_000011.9:g.108115729A>003eT