Canonical Allele Identifier: CA400024802
Gene: ITGB3 HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition Glanzmann thrombasthenia
VCEP Platelet Disorders VCEP
MyVariant.info:
GRCh38 chr17:g.47287134A>C
GRCh37 chr17:g.45364500A>C
Revel Score:
ENST00000262017 0.988
ENST00000435993 0.988
ClinVar RCV:
RCV001803428
ClinVar Variation:
1330335
dbSNP:
2143098907
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47287134A>C , CM000679.2:g.47287134A>C GRCh38
NC_000017.10:g.45364500A>C , CM000679.1:g.45364500A>C GRCh37
NC_000017.9:g.42719499A>C NCBI36
NG_008332.2:g.38293A>C , LRG_481:g.38293A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696963.1:c.842A>C ENSP00000513002.1:p.His281Pro
ENST00000559488.7:c.842A>C MANE Select ENSP00000452786.2:p.His281Pro
ENST00000559488.5:c.842A>C ENSP00000452786.1:p.His281Pro
ENST00000560629.1:c.807A>C
ENST00000571680.1:c.842A>C ENSP00000461626.1:p.His281Pro
NM_000212.2:c.842A>C , LRG_481t1:c.842A>C NP_000203.2:p.His281Pro
NM_000212.3:c.842A>C MANE Select NP_000203.2:p.His281Pro
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