Canonical Allele Identifier: CA124924769

Gene:

Linked Data

• ClinVar Variation Id: 469866
• ClinVar RCV Id: RCV000606361 ; RCV003767022
• dbSNP Id: rs59923692
• gnomAD v2: 5-112043175-G-C
• gnomAD v3: 5-112707478-G-C
• gnomAD v4: 5-112707478-G-C
• MyVariant Identifiers: chr5:g.112043175G>C (hg19) ; chr5:g.112707478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707478G>C , CM000667.2:g.112707478G>C	GRCh38
NC_000005.9:g.112043175G>C , CM000667.1:g.112043175G>C	GRCh37
NC_000005.8:g.112071074G>C	NCBI36
NG_008481.4:g.19958G>C , LRG_130:g.19958G>C