Canonical Allele Identifier: CA31701752

Gene:

Linked Data

• dbSNP Id: rs571244064
• gnomAD v2: 1-168618511-C-T
• gnomAD v3: 1-168649273-C-T
• gnomAD v4: 1-168649273-C-T
• MyVariant Identifiers: chr1:g.168618511C>T (hg19) ; chr1:g.168649273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649273C>T , CM000663.2:g.168649273C>T	GRCh38
NC_000001.10:g.168618511C>T , CM000663.1:g.168618511C>T	GRCh37
NC_000001.9:g.166885135C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-7998G>A
XR_922259.2:n.332-7998G>A