Canonical Allele Identifier: CA123228
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 13555
dbSNP Id: rs121918446

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286363C>T , CM000679.2:g.47286363C>T GRCh38
NC_000017.10:g.45363729C>T , CM000679.1:g.45363729C>T GRCh37
NC_000017.9:g.42718728C>T NCBI36
NG_008332.2:g.37522C>T , LRG_481:g.37522C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.718C>T ENSP00000513002.1:p.Arg240Trp
ENST00000559488.7:c.718C>T MANE Select ENSP00000452786.2:p.Arg240Trp
ENST00000559488.5:c.718C>T ENSP00000452786.1:p.Arg240Trp
ENST00000560629.1:c.683C>T
ENST00000571680.1:c.718C>T ENSP00000461626.1:p.Arg240Trp
NM_000212.2:c.718C>T , LRG_481t1:c.718C>T NP_000203.2:p.Arg240Trp
NM_000212.3:c.718C>T MANE Select NP_000203.2:p.Arg240Trp