Canonical Allele Identifier: CA8622895
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 695335
ClinVar RCV Id: RCV000860861 RCV001123376 RCV001270572
dbSNP Id: rs36080296
ExAC: 17:45360751 T / G
gnomAD v2: 17-45360751-T-G
gnomAD v3: 17-47283385-T-G
gnomAD v4: 17-47283385-T-G
MyVariant Identifiers: chr17:g.45360751T>G (hg19) chr17:g.47283385T>G (hg38)
ERepo: CA8622895/MONDO:0010119/011 CA8622895/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47283385T>G , CM000679.2:g.47283385T>G GRCh38
NC_000017.10:g.45360751T>G , CM000679.1:g.45360751T>G GRCh37
NC_000017.9:g.42715750T>G NCBI36
NG_008332.2:g.34544T>G , LRG_481:g.34544T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696963.1:c.197T>G ENSP00000513002.1:p.Leu66Arg
ENST00000559488.7:c.197T>G MANE Select ENSP00000452786.2:p.Leu66Arg
ENST00000559488.5:c.197T>G ENSP00000452786.1:p.Leu66Arg
ENST00000560629.1:c.162T>G
ENST00000571680.1:c.197T>G ENSP00000461626.1:p.Leu66Arg
NM_000212.2:c.197T>G , LRG_481t1:c.197T>G NP_000203.2:p.Leu66Arg
NM_000212.3:c.197T>G MANE Select NP_000203.2:p.Leu66Arg
Search 100 bp 5'
Search 100 bp 3'