Canonical Allele Identifier: CA1098599468

Gene:

Linked Data

• dbSNP Id: rs1780384631
• gnomAD v3: 7-13514460-A-C
• gnomAD v4: 7-13514460-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13514460A>C , CM000669.2:g.13514460A>C	GRCh38
NC_000007.13:g.13554085A>C , CM000669.1:g.13554085A>C	GRCh37
NC_000007.12:g.13520610A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.148-187856A>C