Canonical Allele Identifier: CA1098599392

Gene:

Linked Data

• dbSNP Id: rs1780381408
• gnomAD v3: 7-13514182-C-G
• gnomAD v4: 7-13514182-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13514182C>G , CM000669.2:g.13514182C>G	GRCh38
NC_000007.13:g.13553807C>G , CM000669.1:g.13553807C>G	GRCh37
NC_000007.12:g.13520332C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.148-188134C>G