Canonical Allele Identifier: CA125569083

Gene:

Linked Data

• dbSNP Id: rs905042425
• gnomAD v2: 5-112996690-C-G
• gnomAD v3: 5-113660993-C-G
• gnomAD v4: 5-113660993-C-G
• MyVariant Identifiers: chr5:g.112996690C>G (hg19) ; chr5:g.113660993C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113660993C>G , CM000667.2:g.113660993C>G	GRCh38
NC_000005.9:g.112996690C>G , CM000667.1:g.112996690C>G	GRCh37
NC_000005.8:g.113024589C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742841.1:n.59+27629C>G