Canonical Allele Identifier: CA1035793730

Gene:

Linked Data

• dbSNP Id: rs1678948229
• gnomAD v3: 2-122369012-C-A
• gnomAD v4: 2-122369012-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122369012C>A , CM000664.2:g.122369012C>A	GRCh38
NC_000002.11:g.123126588C>A , CM000664.1:g.123126588C>A	GRCh37
NC_000002.10:g.122843058C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23951C>A
XR_001739684.1:n.556-23951C>A