Canonical Allele Identifier: CA123228

Gene: ITGB3

Linked Data

• ClinVar Variation Id: 13555
• ClinVar RCV Id: RCV002243643 ; RCV001580253 ; RCV002513046 ; RCV000014514
• dbSNP Id: rs121918446
• ExAC: 17:45363729 C / T
• gnomAD v2: 17-45363729-C-T
• gnomAD v3: 17-47286363-C-T
• gnomAD v4: 17-47286363-C-T
• MyVariant Identifiers: chr17:g.45363729C>T (hg19) ; chr17:g.47286363C>T (hg38)
• PubMed: PMID:1602006
• ERepo: CA123228/MONDO:0100326/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47286363C>T , CM000679.2:g.47286363C>T	GRCh38
NC_000017.10:g.45363729C>T , CM000679.1:g.45363729C>T	GRCh37
NC_000017.9:g.42718728C>T	NCBI36
NG_008332.2:g.37522C>T , LRG_481:g.37522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.718C>T	ENSP00000513002.1:p.Arg240Trp
ENST00000559488.7:c.718C>T MANE Select	ENSP00000452786.2:p.Arg240Trp
ENST00000559488.5:c.718C>T	ENSP00000452786.1:p.Arg240Trp
ENST00000560629.1:c.683C>T
ENST00000571680.1:c.718C>T	ENSP00000461626.1:p.Arg240Trp
NM_000212.2:c.718C>T , LRG_481t1:c.718C>T	NP_000203.2:p.Arg240Trp
NM_000212.3:c.718C>T MANE Select	NP_000203.2:p.Arg240Trp