Canonical Allele Identifier: CA533610976
Gene:

Linked Data

dbSNP Id: rs1445372289
gnomAD v2: 2-67864652-C-G
gnomAD v3: 2-67637520-C-G
gnomAD v4: 2-67637520-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.67637520C>G , CM000664.2:g.67637520C>G GRCh38
NC_000002.11:g.67864652C>G , CM000664.1:g.67864652C>G GRCh37
NC_000002.10:g.67718156C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739524.1:n.65+13446G>C