Canonical Allele Identifier: CA1762557046
Gene:

Linked Data

dbSNP Id: rs1807098062
gnomAD v4: 8-9325793-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9325793G>A , CM000670.2:g.9325793G>A GRCh38
NC_000008.10:g.9183303G>A , CM000670.1:g.9183303G>A GRCh37
NC_000008.9:g.9220713G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_040039.1:n.364-109G>A