Canonical Allele Identifier: CA1116942074

Gene:

Linked Data

• dbSNP Id: rs1810399923
• gnomAD v3: 8-97269724-C-G
• gnomAD v4: 8-97269724-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269724C>G , CM000670.2:g.97269724C>G	GRCh38
NC_000008.10:g.98281952C>G , CM000670.1:g.98281952C>G	GRCh37
NC_000008.9:g.98351128C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149346G>C