Canonical Allele Identifier: CA15582385
Gene:

Linked Data

dbSNP Id: rs10504249
gnomAD v2: 8-58789081-A-G
gnomAD v3: 8-57876522-A-G
gnomAD v4: 8-57876522-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.57876522A>G , CM000670.2:g.57876522A>G GRCh38
NC_000008.10:g.58789081A>G , CM000670.1:g.58789081A>G GRCh37
NC_000008.9:g.58951635A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928921.1:n.346+11904A>G
XR_928921.2:n.348+11904A>G