Canonical Allele Identifier: CA400021992
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1684354
ClinVar RCV Id: RCV002245360
dbSNP Id: rs887221055
gnomAD v4: 17-47284525-C-G
MyVariant Identifiers: chr17:g.45361891C>G (hg19) chr17:g.47284525C>G (hg38)
ERepo: CA400021992/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284525C>G , CM000679.2:g.47284525C>G GRCh38
NC_000017.10:g.45361891C>G , CM000679.1:g.45361891C>G GRCh37
NC_000017.9:g.42716890C>G NCBI36
NG_008332.2:g.35684C>G , LRG_481:g.35684C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.444C>G ENSP00000513002.1:p.Tyr148Ter
ENST00000559488.7:c.444C>G MANE Select ENSP00000452786.2:p.Tyr148Ter
ENST00000559488.5:c.444C>G ENSP00000452786.1:p.Tyr148Ter
ENST00000560629.1:c.409C>G
ENST00000571680.1:c.444C>G ENSP00000461626.1:p.Tyr148Ter
NM_000212.2:c.444C>G , LRG_481t1:c.444C>G NP_000203.2:p.Tyr148Ter
NM_000212.3:c.444C>G MANE Select NP_000203.2:p.Tyr148Ter
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