Canonical Allele Identifier: CA1080271892

Gene:

Linked Data

• dbSNP Id: rs1780064171
• gnomAD v3: 5-113661158-C-T
• gnomAD v4: 5-113661158-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113661158C>T , CM000667.2:g.113661158C>T	GRCh38
NC_000005.9:g.112996855C>T , CM000667.1:g.112996855C>T	GRCh37
NC_000005.8:g.113024754C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742841.1:n.59+27794C>T