Canonical Allele Identifier: CA1080214484

Gene:

Linked Data

• ClinVar Variation Id: 1054521
• ClinVar RCV Id: RCV003538741
• dbSNP Id: rs1750548254
• gnomAD v3: 5-112707323-T-C
• gnomAD v4: 5-112707323-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707323T>C , CM000667.2:g.112707323T>C	GRCh38
NC_000005.9:g.112043020T>C , CM000667.1:g.112043020T>C	GRCh37
NC_000005.8:g.112070919T>C	NCBI36
NG_008481.4:g.19803T>C , LRG_130:g.19803T>C