Canonical Allele Identifier: CA8623016
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2498348
ClinVar RCV Id: RCV003222557 RCV003561238
dbSNP Id: rs747116356
ExAC: 17:45363666 G / A
gnomAD v2: 17-45363666-G-A
gnomAD v4: 17-47286300-G-A
MyVariant Identifiers: chr17:g.45363666G>A (hg19) chr17:g.47286300G>A (hg38)
ERepo: CA8623016/MONDO:0100326/011
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286300G>A , CM000679.2:g.47286300G>A GRCh38
NC_000017.10:g.45363666G>A , CM000679.1:g.45363666G>A GRCh37
NC_000017.9:g.42718665G>A NCBI36
NG_008332.2:g.37459G>A , LRG_481:g.37459G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.655G>A ENSP00000513002.1:p.Val219Met
ENST00000559488.7:c.655G>A MANE Select ENSP00000452786.2:p.Val219Met
ENST00000559488.5:c.655G>A ENSP00000452786.1:p.Val219Met
ENST00000560629.1:c.620G>A
ENST00000571680.1:c.655G>A ENSP00000461626.1:p.Val219Met
NM_000212.2:c.655G>A , LRG_481t1:c.655G>A NP_000203.2:p.Val219Met
NM_000212.3:c.655G>A MANE Select NP_000203.2:p.Val219Met
Search 100 bp 5'
Search 100 bp 3'