Canonical Allele Identifier: CA14436207
Gene: ITGB3 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.47300211G>T
GRCh37 chr17:g.45377577G>T
gnomAD v2:
17:45377577 G / T
gnomAD v3:
17:47300211 G / T
gnomAD v4:
chr17-47300211-G-T
Joint Max Group AF 0.22422193 (NFE)
Genomes Max Group AF 0.22422193 (NFE)
ClinVar RCV:
RCV001678476
ClinVar Variation:
1267923
dbSNP:
12603582
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47300211G>T , CM000679.2:g.47300211G>T GRCh38
NC_000017.10:g.45377577G>T , CM000679.1:g.45377577G>T GRCh37
NC_000017.9:g.42732576G>T NCBI36
NG_008332.2:g.51370G>T , LRG_481:g.51370G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.1914-267G>T ENSP00000513002.1:n.1914-267G>T
ENST00000559488.7:c.1914-267G>T MANE Select ENSP00000452786.2:n.1914-267G>T
ENST00000559488.5:c.1914-267G>T ENSP00000452786.1:n.1914-267G>T
ENST00000560629.1:c.1879-267G>T
NM_000212.2:c.1914-267G>T , LRG_481t1:c.1914-267G>T NP_000203.2:n.1914-267G>T
NM_000212.3:c.1914-267G>T MANE Select NP_000203.2:n.1914-267G>T
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