别名

VAL253ILE
Allele Registry ID:CA4984656
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
985214818521481CT
Transcript
ENST00000381196.4

基因序列

NM_002839.3:c.757G>003eA
NP_002830.1:p.Val253Ile
NC_000009.11:g.8521481C>003eT