Canonical Allele Identifier: CA31701744

Gene:

Linked Data

• dbSNP Id: rs1027697949
• gnomAD v2: 1-168618475-T-C
• gnomAD v3: 1-168649237-T-C
• gnomAD v4: 1-168649237-T-C
• MyVariant Identifiers: chr1:g.168618475T>C (hg19) ; chr1:g.168649237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649237T>C , CM000663.2:g.168649237T>C	GRCh38
NC_000001.10:g.168618475T>C , CM000663.1:g.168618475T>C	GRCh37
NC_000001.9:g.166885099T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-7962A>G
XR_922259.2:n.332-7962A>G