Canonical Allele Identifier: CA400021960
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210169
ClinVar RCV Id: RCV001580212
dbSNP Id: rs2065095643
gnomAD v4: 17-47284518-T-C
MyVariant Identifiers: chr17:g.45361884T>C (hg19) chr17:g.47284518T>C (hg38)
ERepo: CA400021960/MONDO:0010119/011 CA400021960/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284518T>C , CM000679.2:g.47284518T>C GRCh38
NC_000017.10:g.45361884T>C , CM000679.1:g.45361884T>C GRCh37
NC_000017.9:g.42716883T>C NCBI36
NG_008332.2:g.35677T>C , LRG_481:g.35677T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.437T>C ENSP00000513002.1:p.Leu146Pro
ENST00000559488.7:c.437T>C MANE Select ENSP00000452786.2:p.Leu146Pro
ENST00000559488.5:c.437T>C ENSP00000452786.1:p.Leu146Pro
ENST00000560629.1:c.402T>C
ENST00000571680.1:c.437T>C ENSP00000461626.1:p.Leu146Pro
NM_000212.2:c.437T>C , LRG_481t1:c.437T>C NP_000203.2:p.Leu146Pro
NM_000212.3:c.437T>C MANE Select NP_000203.2:p.Leu146Pro
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