Canonical Allele Identifier: CA1115693090
Gene:

Linked Data

dbSNP Id: rs1810028999
gnomAD v3: 8-79191089-A-G
gnomAD v4: 8-79191089-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.79191089A>G , CM000670.2:g.79191089A>G GRCh38
NC_000008.10:g.80103324A>G , CM000670.1:g.80103324A>G GRCh37
NC_000008.9:g.80265879A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745720.1:n.105+718A>G