Canonical Allele Identifier: CA528656592

Gene:

Linked Data

• dbSNP Id: rs1456201075
• gnomAD v2: 1-211553085-C-T
• gnomAD v3: 1-211379743-C-T
• gnomAD v4: 1-211379743-C-T
• MyVariant Identifiers: chr1:g.211553085C>T (hg19) ; chr1:g.211379743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211379743C>T , CM000663.2:g.211379743C>T	GRCh38
NC_000001.10:g.211553085C>T , CM000663.1:g.211553085C>T	GRCh37
NC_000001.9:g.209619708C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001738446.1:n.291+2452G>A