Canonical Allele Identifier: CA123230
Gene: ITGB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13556
ClinVar RCV Id: RCV000014515
dbSNP Id: rs121918447

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310169T>C , CM000679.2:g.47310169T>C GRCh38
NC_000017.10:g.45387535T>C , CM000679.1:g.45387535T>C GRCh37
NC_000017.9:g.42742534T>C NCBI36
NG_008332.2:g.61328T>C , LRG_481:g.61328T>C

Transcript Alleles

HGVS Amino-acid change
NM_000212.2:c.2332T>C , LRG_481t1:c.2332T>C NP_000203.2:p.Ser778Pro
NR_110880.1:n.363-6387A>G
NR_110881.1:n.227-6387A>G
ENST00000559488.5:c.2332T>C ENSP00000452786.1:p.Ser778Pro
ENST00000560629.1:n.2266+2532T>C