Canonical Allele Identifier: CA123235
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 13558
ClinVar RCV Id: RCV000014519 RCV000246922 RCV000383813 RCV001799606 RCV001517663
dbSNP Id: rs5918
ExAC: 17:45360730 T / C
gnomAD v2: 17-45360730-T-C
gnomAD v3: 17-47283364-T-C
gnomAD v4: 17-47283364-T-C
MyVariant Identifiers: chr17:g.45360730T>C (hg19) chr17:g.47283364T>C (hg38)
ERepo: CA123235/MONDO:0010119/011
PubMed: PMID:2565345 PMID:7570918 PMID:8598867 PMID:8667943 PMID:8838346 PMID:9700201 PMID:10583927 PMID:11723016 PMID:17264806
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47283364T>C , CM000679.2:g.47283364T>C GRCh38
NC_000017.10:g.45360730T>C , CM000679.1:g.45360730T>C GRCh37
NC_000017.9:g.42715729T>C NCBI36
NG_008332.2:g.34523T>C , LRG_481:g.34523T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.176T>C ENSP00000513002.1:p.Leu59Pro
ENST00000559488.7:c.176T>C MANE Select ENSP00000452786.2:p.Leu59Pro
ENST00000559488.5:c.176T>C ENSP00000452786.1:p.Leu59Pro
ENST00000560629.1:c.141T>C
ENST00000571680.1:c.176T>C ENSP00000461626.1:p.Leu59Pro
NM_000212.2:c.176T>C , LRG_481t1:c.176T>C NP_000203.2:p.Leu59Pro
NM_000212.3:c.176T>C MANE Select NP_000203.2:p.Leu59Pro
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