Canonical Allele Identifier: CA1098599352

Gene:

Linked Data

• dbSNP Id: rs1780381177
• gnomAD v3: 7-13514144-C-T
• gnomAD v4: 7-13514144-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13514144C>T , CM000669.2:g.13514144C>T	GRCh38
NC_000007.13:g.13553769C>T , CM000669.1:g.13553769C>T	GRCh37
NC_000007.12:g.13520294C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.148-188172C>T