Canonical Allele Identifier: CA689466349
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs1192740750
gnomAD v3: 12-47908764-G-T
gnomAD v4: 12-47908764-G-T
MyVariant Identifiers: chr12:g.48302547G>T (hg19) chr12:g.47908764G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47908764G>T , CM000674.2:g.47908764G>T GRCh38
NC_000012.11:g.48302547G>T , CM000674.1:g.48302547G>T GRCh37
NC_000012.10:g.46588814G>T NCBI36
NG_008731.1:g.1268C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395324.6:c.-83-25990C>A ENSP00000378734.2:n.-83-25990C>A
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