Canonical Allele Identifier: CA123252

Gene: ITGB3

Linked Data

• ClinVar Variation Id: 13567
• ClinVar RCV Id: RCV000014535 ; RCV001580250 ; RCV003448246 ; RCV003736537
• dbSNP Id: rs121918452
• ExAC: 17:45361875 T / G
• gnomAD v2: 17-45361875-T-G
• gnomAD v4: 17-47284509-T-G
• MyVariant Identifiers: chr17:g.45361875T>G (hg19) ; chr17:g.47284509T>G (hg38)
• ERepo: CA123252/MONDO:0010119/011 ; CA123252/MONDO:0100326/011
• PubMed: PMID:9376589 ; PMID:16463284

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47284509T>G , CM000679.2:g.47284509T>G	GRCh38
NC_000017.10:g.45361875T>G , CM000679.1:g.45361875T>G	GRCh37
NC_000017.9:g.42716874T>G	NCBI36
NG_008332.2:g.35668T>G , LRG_481:g.35668T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.428T>G	ENSP00000513002.1:p.Leu143Trp
ENST00000559488.7:c.428T>G MANE Select	ENSP00000452786.2:p.Leu143Trp
ENST00000559488.5:c.428T>G	ENSP00000452786.1:p.Leu143Trp
ENST00000560629.1:c.393T>G
ENST00000571680.1:c.428T>G	ENSP00000461626.1:p.Leu143Trp
NM_000212.2:c.428T>G , LRG_481t1:c.428T>G	NP_000203.2:p.Leu143Trp
NM_000212.3:c.428T>G MANE Select	NP_000203.2:p.Leu143Trp