Canonical Allele Identifier: CA8622945
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2730957
ClinVar RCV Id: RCV003579886
dbSNP Id: rs780819110
ExAC: 17:45361791 C / T
gnomAD v2: 17-45361791-C-T
gnomAD v4: 17-47284425-C-T
MyVariant Identifiers: chr17:g.45361791C>T (hg19) chr17:g.47284425C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284425C>T , CM000679.2:g.47284425C>T GRCh38
NC_000017.10:g.45361791C>T , CM000679.1:g.45361791C>T GRCh37
NC_000017.9:g.42716790C>T NCBI36
NG_008332.2:g.35584C>T , LRG_481:g.35584C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.362-18C>T ENSP00000513002.1:n.362-18C>T
ENST00000559488.7:c.362-18C>T MANE Select ENSP00000452786.2:n.362-18C>T
ENST00000559488.5:c.362-18C>T ENSP00000452786.1:n.362-18C>T
ENST00000560629.1:c.327-18C>T
ENST00000571680.1:c.362-18C>T ENSP00000461626.1:n.362-18C>T
NM_000212.2:c.362-18C>T , LRG_481t1:c.362-18C>T NP_000203.2:n.362-18C>T
NM_000212.3:c.362-18C>T MANE Select NP_000203.2:n.362-18C>T
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