Canonical Allele Identifier: CA171827738
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9329732A>G , CM000670.2:g.9329732A>G GRCh38
NC_000008.10:g.9187242A>G , CM000670.1:g.9187242A>G GRCh37
NC_000008.9:g.9224652A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_040039.1:n.766-2672A>G