Canonical Allele Identifier: CA35069256

Gene:

Linked Data

• dbSNP Id: rs932552819
• gnomAD v2: 1-192769708-T-C
• gnomAD v3: 1-192800578-T-C
• gnomAD v4: 1-192800578-T-C
• MyVariant Identifiers: chr1:g.192769708T>C (hg19) ; chr1:g.192800578T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800578T>C , CM000663.2:g.192800578T>C	GRCh38
NC_000001.10:g.192769708T>C , CM000663.1:g.192769708T>C	GRCh37
NC_000001.9:g.191036331T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.8T>C