Canonical Allele Identifier: CA2059285055

Gene:

Linked Data

• dbSNP Id: rs1592850292
• gnomAD v3: 12-102501471-A-G
• gnomAD v4: 12-102501471-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501471A>G , CM000674.2:g.102501471A>G	GRCh38
NC_000012.11:g.102895249A>G , CM000674.1:g.102895249A>G	GRCh37
NC_000012.10:g.101419379A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001749289.1:n.1952+17583A>G