Canonical Allele Identifier: CA663940229
Gene:

Linked Data

dbSNP Id: rs1397113113
gnomAD v3: 10-3366713-C-A
gnomAD v4: 10-3366713-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3366713C>A , CM000672.2:g.3366713C>A GRCh38
NC_000010.10:g.3408905C>A , CM000672.1:g.3408905C>A GRCh37
NC_000010.9:g.3398905C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_131187.1:n.162+47857C>A