Canonical Allele Identifier: CA611793675

Gene:

Linked Data

• dbSNP Id: rs1331140212
• gnomAD v2: 13-95505369-C-A
• gnomAD v3: 13-94853115-C-A
• gnomAD v4: 13-94853115-C-A
• MyVariant Identifiers: chr13:g.95505369C>A (hg19) ; chr13:g.94853115C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94853115C>A , CM000675.2:g.94853115C>A	GRCh38
NC_000013.10:g.95505369C>A , CM000675.1:g.95505369C>A	GRCh37
NC_000013.9:g.94303370C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_110754.1:n.257-52349C>A