Canonical Allele Identifier: CA8623522
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

dbSNP Id: rs367659742
ExAC: 17:45387554 C / T
gnomAD v2: 17-45387554-C-T
gnomAD v3: 17-47310188-C-T
gnomAD v4: 17-47310188-C-T
MyVariant Identifiers: chr17:g.45387554C>T (hg19) chr17:g.47310188C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310188C>T , CM000679.2:g.47310188C>T GRCh38
NC_000017.10:g.45387554C>T , CM000679.1:g.45387554C>T GRCh37
NC_000017.9:g.42742553C>T NCBI36
NG_008332.2:g.61347C>T , LRG_481:g.61347C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559488.7:c.2351C>T (ITGB3) MANE Select ENSP00000452786.2:p.Thr784Met
ENST00000559488.5:c.2351C>T (ITGB3) ENSP00000452786.1:p.Thr784Met
ENST00000560629.1:c.2266+2551C>T
NM_000212.2:c.2351C>T , LRG_481t1:c.2351C>T (ITGB3) NP_000203.2:p.Thr784Met
NR_110880.1:n.363-6406G>A (EFCAB13-DT)
NR_110881.1:n.227-6406G>A (EFCAB13-DT)
NM_000212.3:c.2351C>T (ITGB3) MANE Select NP_000203.2:p.Thr784Met
Search 100 bp 5'
Search 100 bp 3'