Canonical Allele Identifier: CA1014751126

Gene:

Linked Data

• dbSNP Id: rs769099182
• gnomAD v3: 20-1875448-C-T
• gnomAD v4: 20-1875448-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.1875448C>T , CM000682.2:g.1875448C>T	GRCh38
NC_000020.10:g.1856094C>T , CM000682.1:g.1856094C>T	GRCh37
NC_000020.9:g.1804094C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001754467.1:n.433-7355G>A