Canonical Allele Identifier: CA8622831
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 235258
ClinVar RCV Id: RCV000224944 RCV000364007
dbSNP Id: rs115600591
ExAC: 17:45331267 G / A
gnomAD v2: 17-45331267-G-A
gnomAD v3: 17-47253901-G-A
gnomAD v4: 17-47253901-G-A
MyVariant Identifiers: chr17:g.45331267G>A (hg19) chr17:g.47253901G>A (hg38)
ERepo: CA8622831/MONDO:0010119/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47253901G>A , CM000679.2:g.47253901G>A GRCh38
NC_000017.10:g.45331267G>A , CM000679.1:g.45331267G>A GRCh37
NC_000017.9:g.42686266G>A NCBI36
NG_008332.2:g.5060G>A , LRG_481:g.5060G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.40G>A ENSP00000513002.1:p.Val14Met
ENST00000559488.7:c.40G>A MANE Select ENSP00000452786.2:p.Val14Met
ENST00000559488.5:c.40G>A ENSP00000452786.1:p.Val14Met
ENST00000560629.1:c.5G>A
ENST00000571680.1:c.40G>A ENSP00000461626.1:p.Val14Met
NM_000212.2:c.40G>A , LRG_481t1:c.40G>A NP_000203.2:p.Val14Met
NM_000212.3:c.40G>A MANE Select NP_000203.2:p.Val14Met
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