Canonical Allele Identifier: CA8623014
Gene: ITGB3 HGNC NCBI

Linked Data

dbSNP Id: rs772224387
ExAC: 17:45363644 G / A
gnomAD v2: 17-45363644-G-A
gnomAD v4: 17-47286278-G-A
MyVariant Identifiers: chr17:g.45363644G>A (hg19) chr17:g.47286278G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47286278G>A , CM000679.2:g.47286278G>A GRCh38
NC_000017.10:g.45363644G>A , CM000679.1:g.45363644G>A GRCh37
NC_000017.9:g.42718643G>A NCBI36
NG_008332.2:g.37437G>A , LRG_481:g.37437G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.633G>A ENSP00000513002.1:p.Leu211=
ENST00000559488.7:c.633G>A MANE Select ENSP00000452786.2:p.Leu211=
ENST00000559488.5:c.633G>A ENSP00000452786.1:p.Leu211=
ENST00000560629.1:c.598G>A
ENST00000571680.1:c.633G>A ENSP00000461626.1:p.Leu211=
NM_000212.2:c.633G>A , LRG_481t1:c.633G>A NP_000203.2:p.Leu211=
NM_000212.3:c.633G>A MANE Select NP_000203.2:p.Leu211=
Search 100 bp 5'
Search 100 bp 3'