Canonical Allele Identifier: CA291224647
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2882617
ClinVar RCV Id: RCV003721638
dbSNP Id: rs887221055
gnomAD v3: 17-47284525-C-T
gnomAD v4: 17-47284525-C-T
MyVariant Identifiers: chr17:g.45361891C>T (hg19) chr17:g.47284525C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284525C>T , CM000679.2:g.47284525C>T GRCh38
NC_000017.10:g.45361891C>T , CM000679.1:g.45361891C>T GRCh37
NC_000017.9:g.42716890C>T NCBI36
NG_008332.2:g.35684C>T , LRG_481:g.35684C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.444C>T ENSP00000513002.1:p.Tyr148=
ENST00000559488.7:c.444C>T MANE Select ENSP00000452786.2:p.Tyr148=
ENST00000559488.5:c.444C>T ENSP00000452786.1:p.Tyr148=
ENST00000560629.1:c.409C>T
ENST00000571680.1:c.444C>T ENSP00000461626.1:p.Tyr148=
NM_000212.2:c.444C>T , LRG_481t1:c.444C>T NP_000203.2:p.Tyr148=
NM_000212.3:c.444C>T MANE Select NP_000203.2:p.Tyr148=
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