Canonical Allele Identifier: CA217265295
Gene:

Linked Data

dbSNP Id: rs900943146
gnomAD v4: 11-6318904-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6318904C>G , CM000673.2:g.6318904C>G GRCh38
NC_000011.9:g.6340134C>G , CM000673.1:g.6340134C>G GRCh37
NC_000011.8:g.6296710C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930997.1:n.720+684C>G