Canonical Allele Identifier: CA527349830

Gene:

Linked Data

• dbSNP Id: rs1258145341
• gnomAD v2: 1-172710935-C-G
• gnomAD v3: 1-172741795-C-G
• gnomAD v4: 1-172741795-C-G
• MyVariant Identifiers: chr1:g.172710935C>G (hg19) ; chr1:g.172741795C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.172741795C>G , CM000663.2:g.172741795C>G	GRCh38
NC_000001.10:g.172710935C>G , CM000663.1:g.172710935C>G	GRCh37
NC_000001.9:g.170977558C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922289.1:n.27-34024C>G