Canonical Allele Identifier: CA16043530
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 374016
dbSNP Id: rs1057518838

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286394A>G , CM000679.2:g.47286394A>G GRCh38
NC_000017.10:g.45363760A>G , CM000679.1:g.45363760A>G GRCh37
NC_000017.9:g.42718759A>G NCBI36
NG_008332.2:g.37553A>G , LRG_481:g.37553A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.749A>G ENSP00000513002.1:p.Asp250Gly
ENST00000559488.7:c.749A>G MANE Select ENSP00000452786.2:p.Asp250Gly
ENST00000559488.5:c.749A>G ENSP00000452786.1:p.Asp250Gly
ENST00000560629.1:c.714A>G
ENST00000571680.1:c.749A>G ENSP00000461626.1:p.Asp250Gly
NM_000212.2:c.749A>G , LRG_481t1:c.749A>G NP_000203.2:p.Asp250Gly
NM_000212.3:c.749A>G MANE Select NP_000203.2:p.Asp250Gly