Canonical Allele Identifier: CA8622988
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2887614
ClinVar RCV Id: RCV003722446
dbSNP Id: rs746342703
ExAC: 17:45362023 T / C
gnomAD v2: 17-45362023-T-C
gnomAD v3: 17-47284657-T-C
gnomAD v4: 17-47284657-T-C
MyVariant Identifiers: chr17:g.45362023T>C (hg19) chr17:g.47284657T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284657T>C , CM000679.2:g.47284657T>C GRCh38
NC_000017.10:g.45362023T>C , CM000679.1:g.45362023T>C GRCh37
NC_000017.9:g.42717022T>C NCBI36
NG_008332.2:g.35816T>C , LRG_481:g.35816T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.576T>C ENSP00000513002.1:p.Tyr192=
ENST00000559488.7:c.576T>C MANE Select ENSP00000452786.2:p.Tyr192=
ENST00000559488.5:c.576T>C ENSP00000452786.1:p.Tyr192=
ENST00000560629.1:c.541T>C
ENST00000571680.1:c.576T>C ENSP00000461626.1:p.Tyr192=
NM_000212.2:c.576T>C , LRG_481t1:c.576T>C NP_000203.2:p.Tyr192=
NM_000212.3:c.576T>C MANE Select NP_000203.2:p.Tyr192=
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