Canonical Allele Identifier: CA8622948
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2886566
ClinVar RCV Id: RCV003719980 RCV003948956
dbSNP Id: rs141225656
ExAC: 17:45361816 G / A
gnomAD v2: 17-45361816-G-A
gnomAD v3: 17-47284450-G-A
gnomAD v4: 17-47284450-G-A
COSMIC: COSM980413 COSM1588954 COSM4067222
MyVariant Identifiers: chr17:g.45361816G>A (hg19) chr17:g.47284450G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284450G>A , CM000679.2:g.47284450G>A GRCh38
NC_000017.10:g.45361816G>A , CM000679.1:g.45361816G>A GRCh37
NC_000017.9:g.42716815G>A NCBI36
NG_008332.2:g.35609G>A , LRG_481:g.35609G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.369G>A ENSP00000513002.1:p.Ser123=
ENST00000559488.7:c.369G>A MANE Select ENSP00000452786.2:p.Ser123=
ENST00000559488.5:c.369G>A ENSP00000452786.1:p.Ser123=
ENST00000560629.1:c.334G>A
ENST00000571680.1:c.369G>A ENSP00000461626.1:p.Ser123=
NM_000212.2:c.369G>A , LRG_481t1:c.369G>A NP_000203.2:p.Ser123=
NM_000212.3:c.369G>A MANE Select NP_000203.2:p.Ser123=
Search 100 bp 5'
Search 100 bp 3'