Canonical Allele Identifier: CA123232
Gene: ITGB3 HGNC NCBI
ClinGen Classification:
Classification Benign
Condition Glanzmann's thrombasthenia
VCEP Platelet Disorders VCEP
ClinVar RCV:
RCV000014516
RCV000861957
RCV001124484
RCV001818157
ClinVar Variation:
13557
COSMIC:
COSM257188
dbSNP:
5917
gnomAD v2:
17:45361953 G / A
gnomAD v3:
17:47284587 G / A
gnomAD v4:
chr17-47284587-G-A
Joint Max Group AF 0.01056084 (AMR)
Genomes Max Group AF 0.00598336 (AMR)
Exomes Max Group AF 0.0118362 (AMR)
MyVariant.info:
GRCh38 chr17:g.47284587G>A
GRCh37 chr17:g.45361953G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284587G>A , CM000679.2:g.47284587G>A GRCh38
NC_000017.10:g.45361953G>A , CM000679.1:g.45361953G>A GRCh37
NC_000017.9:g.42716952G>A NCBI36
NG_008332.2:g.35746G>A , LRG_481:g.35746G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.506G>A ENSP00000513002.1:p.Arg169Gln
ENST00000559488.7:c.506G>A MANE Select ENSP00000452786.2:p.Arg169Gln
ENST00000559488.5:c.506G>A ENSP00000452786.1:p.Arg169Gln
ENST00000560629.1:c.471G>A
ENST00000571680.1:c.506G>A ENSP00000461626.1:p.Arg169Gln
NM_000212.2:c.506G>A , LRG_481t1:c.506G>A NP_000203.2:p.Arg169Gln
NM_000212.3:c.506G>A MANE Select NP_000203.2:p.Arg169Gln
Search 100 bp 5'
Search 100 bp 3'