Canonical Allele Identifier: CA526771947

Gene:

Linked Data

• dbSNP Id: rs1303380211
• gnomAD v2: 1-168618773-G-C
• gnomAD v3: 1-168649535-G-C
• gnomAD v4: 1-168649535-G-C
• MyVariant Identifiers: chr1:g.168618773G>C (hg19) ; chr1:g.168649535G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649535G>C , CM000663.2:g.168649535G>C	GRCh38
NC_000001.10:g.168618773G>C , CM000663.1:g.168618773G>C	GRCh37
NC_000001.9:g.166885397G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8260C>G
XR_922259.2:n.332-8260C>G