Canonical Allele Identifier: CA31701811

Gene:

Linked Data

• dbSNP Id: rs754138871
• gnomAD v2: 1-168618651-C-T
• gnomAD v3: 1-168649413-C-T
• gnomAD v4: 1-168649413-C-T
• MyVariant Identifiers: chr1:g.168618651C>T (hg19) ; chr1:g.168649413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649413C>T , CM000663.2:g.168649413C>T	GRCh38
NC_000001.10:g.168618651C>T , CM000663.1:g.168618651C>T	GRCh37
NC_000001.9:g.166885275C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8138G>A
XR_922259.2:n.332-8138G>A