Canonical Allele Identifier: CA400034851
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

gnomAD v4: 17-47310190-T-C
MyVariant Identifiers: chr17:g.45387556T>C (hg19) chr17:g.47310190T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310190T>C , CM000679.2:g.47310190T>C GRCh38
NC_000017.10:g.45387556T>C , CM000679.1:g.45387556T>C GRCh37
NC_000017.9:g.42742555T>C NCBI36
NG_008332.2:g.61349T>C , LRG_481:g.61349T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559488.7:c.2353T>C (ITGB3) MANE Select ENSP00000452786.2:p.Tyr785His
ENST00000559488.5:c.2353T>C (ITGB3) ENSP00000452786.1:p.Tyr785His
ENST00000560629.1:c.2266+2553T>C
NM_000212.2:c.2353T>C , LRG_481t1:c.2353T>C (ITGB3) NP_000203.2:p.Tyr785His
NR_110880.1:n.363-6408A>G (EFCAB13-DT)
NR_110881.1:n.227-6408A>G (EFCAB13-DT)
NM_000212.3:c.2353T>C (ITGB3) MANE Select NP_000203.2:p.Tyr785His
Search 100 bp 5'
Search 100 bp 3'