Canonical Allele Identifier: CA291224691
Gene: ITGB3 HGNC NCBI

Linked Data

dbSNP Id: rs934216146
gnomAD v2: 17-45362174-A-G
gnomAD v3: 17-47284808-A-G
gnomAD v4: 17-47284808-A-G
MyVariant Identifiers: chr17:g.45362174A>G (hg19) chr17:g.47284808A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284808A>G , CM000679.2:g.47284808A>G GRCh38
NC_000017.10:g.45362174A>G , CM000679.1:g.45362174A>G GRCh37
NC_000017.9:g.42717173A>G NCBI36
NG_008332.2:g.35967A>G , LRG_481:g.35967A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.614+113A>G ENSP00000513002.1:n.614+113A>G
ENST00000559488.7:c.614+113A>G MANE Select ENSP00000452786.2:n.614+113A>G
ENST00000559488.5:c.614+113A>G ENSP00000452786.1:n.614+113A>G
ENST00000560629.1:c.579+113A>G
ENST00000571680.1:c.614+113A>G ENSP00000461626.1:n.614+113A>G
NM_000212.2:c.614+113A>G , LRG_481t1:c.614+113A>G NP_000203.2:n.614+113A>G
NM_000212.3:c.614+113A>G MANE Select NP_000203.2:n.614+113A>G
Search 100 bp 5'
Search 100 bp 3'