Canonical Allele Identifier: CA8622961
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 953053
ClinVar RCV Id: RCV001225290 RCV002280901 RCV002254202 RCV002281175 RCV003558758
dbSNP Id: rs767548512
ExAC: 17:45361895 A / G
gnomAD v2: 17-45361895-A-G
gnomAD v4: 17-47284529-A-G
MyVariant Identifiers: chr17:g.45361895A>G (hg19) chr17:g.47284529A>G (hg38)
ERepo: CA8622961/MONDO:0010119/011 CA8622961/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284529A>G , CM000679.2:g.47284529A>G GRCh38
NC_000017.10:g.45361895A>G , CM000679.1:g.45361895A>G GRCh37
NC_000017.9:g.42716894A>G NCBI36
NG_008332.2:g.35688A>G , LRG_481:g.35688A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.448A>G ENSP00000513002.1:p.Met150Val
ENST00000559488.7:c.448A>G MANE Select ENSP00000452786.2:p.Met150Val
ENST00000559488.5:c.448A>G ENSP00000452786.1:p.Met150Val
ENST00000560629.1:c.413A>G
ENST00000571680.1:c.448A>G ENSP00000461626.1:p.Met150Val
NM_000212.2:c.448A>G , LRG_481t1:c.448A>G NP_000203.2:p.Met150Val
NM_000212.3:c.448A>G MANE Select NP_000203.2:p.Met150Val
Search 100 bp 5'
Search 100 bp 3'