Canonical Allele Identifier: CA291240306
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 953028
ClinVar RCV Id: RCV001225262 RCV001360644
dbSNP Id: rs1022839092
gnomAD v3: 17-47253892-T-C
gnomAD v4: 17-47253892-T-C
MyVariant Identifiers: chr17:g.45331258T>C (hg19) chr17:g.47253892T>C (hg38)
ERepo: CA291240306/MONDO:0010119/011 CA291240306/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47253892T>C , CM000679.2:g.47253892T>C GRCh38
NC_000017.10:g.45331258T>C , CM000679.1:g.45331258T>C GRCh37
NC_000017.9:g.42686257T>C NCBI36
NG_008332.2:g.5051T>C , LRG_481:g.5051T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.31T>C ENSP00000513002.1:p.Trp11Arg
ENST00000559488.7:c.31T>C MANE Select ENSP00000452786.2:p.Trp11Arg
ENST00000559488.5:c.31T>C ENSP00000452786.1:p.Trp11Arg
ENST00000571680.1:c.31T>C ENSP00000461626.1:p.Trp11Arg
NM_000212.2:c.31T>C , LRG_481t1:c.31T>C NP_000203.2:p.Trp11Arg
NM_000212.3:c.31T>C MANE Select NP_000203.2:p.Trp11Arg
Search 100 bp 5'
Search 100 bp 3'