Canonical Allele Identifier: CA31701825

Gene:

Linked Data

• dbSNP Id: rs74121002
• gnomAD v2: 1-168618707-C-A
• gnomAD v3: 1-168649469-C-A
• gnomAD v4: 1-168649469-C-A
• MyVariant Identifiers: chr1:g.168618707C>A (hg19) ; chr1:g.168649469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649469C>A , CM000663.2:g.168649469C>A	GRCh38
NC_000001.10:g.168618707C>A , CM000663.1:g.168618707C>A	GRCh37
NC_000001.9:g.166885331C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8194G>T
XR_922259.2:n.332-8194G>T