Canonical Allele Identifier: CA236506027
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs967369987
gnomAD v2: 12-48302483-T-C
gnomAD v3: 12-47908700-T-C
gnomAD v4: 12-47908700-T-C
MyVariant Identifiers: chr12:g.48302483T>C (hg19) chr12:g.47908700T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47908700T>C , CM000674.2:g.47908700T>C GRCh38
NC_000012.11:g.48302483T>C , CM000674.1:g.48302483T>C GRCh37
NC_000012.10:g.46588750T>C NCBI36
NG_008731.1:g.1332A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395324.6:c.-83-25926A>G ENSP00000378734.2:n.-83-25926A>G
Search 100 bp 5'
Search 100 bp 3'