Canonical Allele Identifier: CA8623025
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210168
ClinVar RCV Id: RCV001580211 RCV002573260
dbSNP Id: rs756689153
ExAC: 17:45363694 G / A
gnomAD v2: 17-45363694-G-A
gnomAD v3: 17-47286328-G-A
gnomAD v4: 17-47286328-G-A
MyVariant Identifiers: chr17:g.45363694G>A (hg19) chr17:g.47286328G>A (hg38)
ERepo: CA8623025/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286328G>A , CM000679.2:g.47286328G>A GRCh38
NC_000017.10:g.45363694G>A , CM000679.1:g.45363694G>A GRCh37
NC_000017.9:g.42718693G>A NCBI36
NG_008332.2:g.37487G>A , LRG_481:g.37487G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.683G>A ENSP00000513002.1:p.Arg228His
ENST00000559488.7:c.683G>A MANE Select ENSP00000452786.2:p.Arg228His
ENST00000559488.5:c.683G>A ENSP00000452786.1:p.Arg228His
ENST00000560629.1:c.648G>A
ENST00000571680.1:c.683G>A ENSP00000461626.1:p.Arg228His
NM_000212.2:c.683G>A , LRG_481t1:c.683G>A NP_000203.2:p.Arg228His
NM_000212.3:c.683G>A MANE Select NP_000203.2:p.Arg228His
Search 100 bp 5'
Search 100 bp 3'