Canonical Allele Identifier: CA291224490
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210201
ClinVar RCV Id: RCV001580251
dbSNP Id: rs74554539
MyVariant Identifiers: chr17:g.45360745G>A (hg19) chr17:g.47283379G>A (hg38)
ERepo: CA291224490/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47283379G>A , CM000679.2:g.47283379G>A GRCh38
NC_000017.10:g.45360745G>A , CM000679.1:g.45360745G>A GRCh37
NC_000017.9:g.42715744G>A NCBI36
NG_008332.2:g.34538G>A , LRG_481:g.34538G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696963.1:c.191G>A ENSP00000513002.1:p.Cys64Tyr
ENST00000559488.7:c.191G>A MANE Select ENSP00000452786.2:p.Cys64Tyr
ENST00000559488.5:c.191G>A ENSP00000452786.1:p.Cys64Tyr
ENST00000560629.1:c.156G>A
ENST00000571680.1:c.191G>A ENSP00000461626.1:p.Cys64Tyr
NM_000212.2:c.191G>A , LRG_481t1:c.191G>A NP_000203.2:p.Cys64Tyr
NM_000212.3:c.191G>A MANE Select NP_000203.2:p.Cys64Tyr
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