Canonical Allele Identifier: CA12913418
Gene:

Linked Data

ClinVar Variation Id: 1230810
ClinVar RCV Id: RCV001616857
dbSNP Id: rs2250986
gnomAD v2: 8-11422289-G-C
gnomAD v3: 8-11564780-G-C
gnomAD v4: 8-11564780-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11564780G>C , CM000670.2:g.11564780G>C GRCh38
NC_000008.10:g.11422289G>C , CM000670.1:g.11422289G>C GRCh37
NC_000008.9:g.11459698G>C NCBI36
NG_023543.1:g.75769G>C
NG_023543.2:g.75769G>C