Canonical Allele Identifier: CA592700118

Gene:

Linked Data

• dbSNP Id: rs1156808848
• gnomAD v2: 10-30490594-A-G
• gnomAD v3: 10-30201665-A-G
• gnomAD v4: 10-30201665-A-G
• MyVariant Identifiers: chr10:g.30490594A>G (hg19) ; chr10:g.30201665A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30201665A>G , CM000672.2:g.30201665A>G	GRCh38
NC_000010.10:g.30490594A>G , CM000672.1:g.30490594A>G	GRCh37
NC_000010.9:g.30530600A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_930791.1:n.1193-1822A>G
XR_930791.2:n.1449-1822A>G