Canonical Allele Identifier: CA8623024
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2189390
ClinVar RCV Id: RCV002607321 RCV003410121
dbSNP Id: rs763708273
ExAC: 17:45363693 C / T
gnomAD v2: 17-45363693-C-T
gnomAD v3: 17-47286327-C-T
gnomAD v4: 17-47286327-C-T
MyVariant Identifiers: chr17:g.45363693C>T (hg19) chr17:g.47286327C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286327C>T , CM000679.2:g.47286327C>T GRCh38
NC_000017.10:g.45363693C>T , CM000679.1:g.45363693C>T GRCh37
NC_000017.9:g.42718692C>T NCBI36
NG_008332.2:g.37486C>T , LRG_481:g.37486C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.682C>T ENSP00000513002.1:p.Arg228Cys
ENST00000559488.7:c.682C>T MANE Select ENSP00000452786.2:p.Arg228Cys
ENST00000559488.5:c.682C>T ENSP00000452786.1:p.Arg228Cys
ENST00000560629.1:c.647C>T
ENST00000571680.1:c.682C>T ENSP00000461626.1:p.Arg228Cys
NM_000212.2:c.682C>T , LRG_481t1:c.682C>T NP_000203.2:p.Arg228Cys
NM_000212.3:c.682C>T MANE Select NP_000203.2:p.Arg228Cys
Search 100 bp 5'
Search 100 bp 3'