Canonical Allele Identifier: CA422484380

Gene:

Linked Data

• dbSNP Id: rs1219468237
• gnomAD v2: 1-192769725-A-G
• gnomAD v3: 1-192800595-A-G
• gnomAD v4: 1-192800595-A-G
• MyVariant Identifiers: chr1:g.192769725A>G (hg19) ; chr1:g.192800595A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800595A>G , CM000663.2:g.192800595A>G	GRCh38
NC_000001.10:g.192769725A>G , CM000663.1:g.192769725A>G	GRCh37
NC_000001.9:g.191036348A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.25A>G