Canonical Allele Identifier: CA579967942
Gene:

Linked Data

dbSNP Id: rs961526665
gnomAD v2: 8-9183294-C-G
gnomAD v3: 8-9325784-C-G
gnomAD v4: 8-9325784-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9325784C>G , CM000670.2:g.9325784C>G GRCh38
NC_000008.10:g.9183294C>G , CM000670.1:g.9183294C>G GRCh37
NC_000008.9:g.9220704C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_040039.1:n.364-118C>G