Canonical Allele Identifier: CA236506081
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs916575650
gnomAD v2: 12-48302565-G-A
gnomAD v3: 12-47908782-G-A
gnomAD v4: 12-47908782-G-A
MyVariant Identifiers: chr12:g.48302565G>A (hg19) chr12:g.47908782G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47908782G>A , CM000674.2:g.47908782G>A GRCh38
NC_000012.11:g.48302565G>A , CM000674.1:g.48302565G>A GRCh37
NC_000012.10:g.46588832G>A NCBI36
NG_008731.1:g.1250C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395324.6:c.-83-26008C>T ENSP00000378734.2:n.-83-26008C>T
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