Canonical Allele Identifier: CA626487389

Gene:

Linked Data

• dbSNP Id: rs1488326032
• gnomAD v2: 17-48289253-A-G
• gnomAD v3: 17-50211892-A-G
• gnomAD v4: 17-50211892-A-G
• MyVariant Identifiers: chr17:g.48289253A>G (hg19) ; chr17:g.50211892A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211892A>G , CM000679.2:g.50211892A>G	GRCh38
NC_000017.10:g.48289253A>G , CM000679.1:g.48289253A>G	GRCh37
NC_000017.9:g.45644252A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-1943A>G