Canonical Allele Identifier: CA291224887
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 996163
ClinVar RCV Id: RCV002254211 RCV003558796
dbSNP Id: rs79208797
gnomAD v2: 17-45363676-T-C
gnomAD v3: 17-47286310-T-C
gnomAD v4: 17-47286310-T-C
MyVariant Identifiers: chr17:g.45363676T>C (hg19) chr17:g.47286310T>C (hg38)
ERepo: CA291224887/MONDO:0010119/011
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286310T>C , CM000679.2:g.47286310T>C GRCh38
NC_000017.10:g.45363676T>C , CM000679.1:g.45363676T>C GRCh37
NC_000017.9:g.42718675T>C NCBI36
NG_008332.2:g.37469T>C , LRG_481:g.37469T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696963.1:c.665T>C ENSP00000513002.1:p.Leu222Pro
ENST00000559488.7:c.665T>C MANE Select ENSP00000452786.2:p.Leu222Pro
ENST00000559488.5:c.665T>C ENSP00000452786.1:p.Leu222Pro
ENST00000560629.1:c.630T>C
ENST00000571680.1:c.665T>C ENSP00000461626.1:p.Leu222Pro
NM_000212.2:c.665T>C , LRG_481t1:c.665T>C NP_000203.2:p.Leu222Pro
NM_000212.3:c.665T>C MANE Select NP_000203.2:p.Leu222Pro
Search 100 bp 5'
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