Canonical Allele Identifier: CA236506094
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs1001862215
gnomAD v3: 12-47908819-A-C
gnomAD v4: 12-47908819-A-C
MyVariant Identifiers: chr12:g.48302602A>C (hg19) chr12:g.47908819A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47908819A>C , CM000674.2:g.47908819A>C GRCh38
NC_000012.11:g.48302602A>C , CM000674.1:g.48302602A>C GRCh37
NC_000012.10:g.46588869A>C NCBI36
NG_008731.1:g.1213T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395324.6:c.-83-26045T>G ENSP00000378734.2:n.-83-26045T>G
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