Canonical Allele Identifier: CA8622995
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2986536
ClinVar RCV Id: RCV003846191
dbSNP Id: rs376456408
ExAC: 17:45362076 C / T
gnomAD v2: 17-45362076-C-T
gnomAD v3: 17-47284710-C-T
gnomAD v4: 17-47284710-C-T
MyVariant Identifiers: chr17:g.45362076C>T (hg19) chr17:g.47284710C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47284710C>T , CM000679.2:g.47284710C>T GRCh38
NC_000017.10:g.45362076C>T , CM000679.1:g.45362076C>T GRCh37
NC_000017.9:g.42717075C>T NCBI36
NG_008332.2:g.35869C>T , LRG_481:g.35869C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.614+15C>T ENSP00000513002.1:n.614+15C>T
ENST00000559488.7:c.614+15C>T MANE Select ENSP00000452786.2:n.614+15C>T
ENST00000559488.5:c.614+15C>T ENSP00000452786.1:n.614+15C>T
ENST00000560629.1:c.579+15C>T
ENST00000571680.1:c.614+15C>T ENSP00000461626.1:n.614+15C>T
NM_000212.2:c.614+15C>T , LRG_481t1:c.614+15C>T NP_000203.2:n.614+15C>T
NM_000212.3:c.614+15C>T MANE Select NP_000203.2:n.614+15C>T
Search 100 bp 5'
Search 100 bp 3'