Canonical Allele Identifier: CA591716266
Gene:

Linked Data

dbSNP Id: rs1487111662
gnomAD v2: 10-8739431-C-G
gnomAD v3: 10-8697468-C-G
gnomAD v4: 10-8697468-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8697468C>G , CM000672.2:g.8697468C>G GRCh38
NC_000010.10:g.8739431C>G , CM000672.1:g.8739431C>G GRCh37
NC_000010.9:g.8779437C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930641.1:n.33-27667G>C