Canonical Allele Identifier: CA797158435
Gene:

Linked Data

dbSNP Id: rs1428899447
gnomAD v3: 4-62557847-C-A
gnomAD v4: 4-62557847-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62557847C>A , CM000666.2:g.62557847C>A GRCh38
NC_000004.11:g.63423565C>A , CM000666.1:g.63423565C>A GRCh37
NC_000004.10:g.63106160C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5997C>A