Canonical Allele Identifier: CA12936277
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9325848A>G , CM000670.2:g.9325848A>G GRCh38
NC_000008.10:g.9183358A>G , CM000670.1:g.9183358A>G GRCh37
NC_000008.9:g.9220768A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_040039.1:n.364-54A>G