Canonical Allele Identifier: CA127308

Gene:

Linked Data

• ClinVar Variation Id: 17627
• ClinVar RCV Id: RCV000019194 ; RCV000830431
• dbSNP Id: rs2281845
• gnomAD v2: 1-201081943-C-T
• gnomAD v3: 1-201112815-C-T
• gnomAD v4: 1-201112815-C-T
• MyVariant Identifiers: chr1:g.201081943C>T (hg19) ; chr1:g.201112815C>T (hg38)
• PubMed: PMID:15001631

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201112815C>T , CM000663.2:g.201112815C>T	GRCh38
NC_000001.10:g.201081943C>T , CM000663.1:g.201081943C>T	GRCh37
NC_000001.9:g.199348566C>T	NCBI36
NG_009816.1:g.4752G>A
NG_009816.2:g.4752G>A