Canonical Allele Identifier: CA12913273
Gene:

Linked Data

dbSNP Id: rs4841132
gnomAD v2: 8-9183596-A-G
gnomAD v3: 8-9326086-A-G
gnomAD v4: 8-9326086-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9326086A>G , CM000670.2:g.9326086A>G GRCh38
NC_000008.10:g.9183596A>G , CM000670.1:g.9183596A>G GRCh37
NC_000008.9:g.9221006A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_040039.1:n.548A>G