Canonical Allele Identifier: CA400030168
Gene: ITGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 977131
ClinVar RCV Id: RCV001254668
dbSNP Id: rs185135224
MyVariant Identifiers: chr17:g.45369885C>A (hg19) chr17:g.47292519C>A (hg38)
ERepo: CA400030168/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47292519C>A , CM000679.2:g.47292519C>A GRCh38
NC_000017.10:g.45369885C>A , CM000679.1:g.45369885C>A GRCh37
NC_000017.9:g.42724884C>A NCBI36
NG_008332.2:g.43678C>A , LRG_481:g.43678C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696963.1:c.1641C>A ENSP00000513002.1:p.Cys547Ter
ENST00000559488.7:c.1641C>A MANE Select ENSP00000452786.2:p.Cys547Ter
ENST00000559488.5:c.1641C>A ENSP00000452786.1:p.Cys547Ter
ENST00000560629.1:c.1606C>A
NM_000212.2:c.1641C>A , LRG_481t1:c.1641C>A NP_000203.2:p.Cys547Ter
NM_000212.3:c.1641C>A MANE Select NP_000203.2:p.Cys547Ter
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