Canonical Allele Identifier: CA289293291

Gene:

Linked Data

• dbSNP Id: rs531775566
• gnomAD v2: 17-28564181-A-G
• gnomAD v3: 17-30237163-A-G
• gnomAD v4: 17-30237163-A-G
• MyVariant Identifiers: chr17:g.28564181A>G (hg19) ; chr17:g.30237163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237163A>G , CM000679.2:g.30237163A>G	GRCh38
NC_000017.10:g.28564181A>G , CM000679.1:g.28564181A>G	GRCh37
NC_000017.9:g.25588307A>G	NCBI36
NG_011747.2:g.3774T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+93A>G
XR_001752824.1:n.280+93A>G