Canonical Allele Identifier: CA2262605376
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2915860
ClinVar RCV Id: RCV003740185
dbSNP Id: rs2065096684
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284709C>G , CM000679.2:g.47284709C>G GRCh38
NC_000017.10:g.45362075C>G , CM000679.1:g.45362075C>G GRCh37
NC_000017.9:g.42717074C>G NCBI36
NG_008332.2:g.35868C>G , LRG_481:g.35868C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.614+14C>G ENSP00000513002.1:n.614+14C>G
ENST00000559488.7:c.614+14C>G MANE Select ENSP00000452786.2:n.614+14C>G
ENST00000559488.5:c.614+14C>G ENSP00000452786.1:n.614+14C>G
ENST00000560629.1:c.579+14C>G
ENST00000571680.1:c.614+14C>G ENSP00000461626.1:n.614+14C>G
NM_000212.2:c.614+14C>G , LRG_481t1:c.614+14C>G NP_000203.2:n.614+14C>G
NM_000212.3:c.614+14C>G MANE Select NP_000203.2:n.614+14C>G
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