Canonical Allele Identifier: CA14421843
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1262627
ClinVar RCV Id: RCV001669860
dbSNP Id: rs12709458
gnomAD v2: 17-45361119-T-G
gnomAD v3: 17-47283753-T-G
gnomAD v4: 17-47283753-T-G
MyVariant Identifiers: chr17:g.45361119T>G (hg19) chr17:g.47283753T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47283753T>G , CM000679.2:g.47283753T>G GRCh38
NC_000017.10:g.45361119T>G , CM000679.1:g.45361119T>G GRCh37
NC_000017.9:g.42716118T>G NCBI36
NG_008332.2:g.34912T>G , LRG_481:g.34912T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.361+204T>G ENSP00000513002.1:n.361+204T>G
ENST00000559488.7:c.361+204T>G MANE Select ENSP00000452786.2:n.361+204T>G
ENST00000559488.5:c.361+204T>G ENSP00000452786.1:n.361+204T>G
ENST00000560629.1:c.326+204T>G
ENST00000571680.1:c.361+204T>G ENSP00000461626.1:n.361+204T>G
NM_000212.2:c.361+204T>G , LRG_481t1:c.361+204T>G NP_000203.2:n.361+204T>G
NM_000212.3:c.361+204T>G MANE Select NP_000203.2:n.361+204T>G
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