Canonical Allele Identifier: CA180418731
Gene:

Linked Data

dbSNP Id: rs773214573
gnomAD v2: 8-80103414-C-A
gnomAD v3: 8-79191179-C-A
gnomAD v4: 8-79191179-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.79191179C>A , CM000670.2:g.79191179C>A GRCh38
NC_000008.10:g.80103414C>A , CM000670.1:g.80103414C>A GRCh37
NC_000008.9:g.80265969C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745720.1:n.105+808C>A