Canonical Allele Identifier: CA526771939

Gene:

Linked Data

• dbSNP Id: rs1332871280
• gnomAD v2: 1-168618487-G-T
• gnomAD v3: 1-168649249-G-T
• gnomAD v4: 1-168649249-G-T
• MyVariant Identifiers: chr1:g.168618487G>T (hg19) ; chr1:g.168649249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649249G>T , CM000663.2:g.168649249G>T	GRCh38
NC_000001.10:g.168618487G>T , CM000663.1:g.168618487G>T	GRCh37
NC_000001.9:g.166885111G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-7974C>A
XR_922259.2:n.332-7974C>A