Canonical Allele Identifier: CA984236252
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

dbSNP Id: rs2065207544
gnomAD v3: 17-47310118-G-A
gnomAD v4: 17-47310118-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310118G>A , CM000679.2:g.47310118G>A GRCh38
NC_000017.10:g.45387484G>A , CM000679.1:g.45387484G>A GRCh37
NC_000017.9:g.42742483G>A NCBI36
NG_008332.2:g.61277G>A , LRG_481:g.61277G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559488.7:c.2302-21G>A (ITGB3) MANE Select ENSP00000452786.2:n.2302-21G>A
ENST00000559488.5:c.2302-21G>A (ITGB3) ENSP00000452786.1:n.2302-21G>A
ENST00000560629.1:c.2266+2481G>A
NM_000212.2:c.2302-21G>A , LRG_481t1:c.2302-21G>A (ITGB3) NP_000203.2:n.2302-21G>A
NR_110880.1:n.363-6336C>T (EFCAB13-DT)
NR_110881.1:n.227-6336C>T (EFCAB13-DT)
NM_000212.3:c.2302-21G>A (ITGB3) MANE Select NP_000203.2:n.2302-21G>A
Search 100 bp 5'
Search 100 bp 3'