Canonical Allele Identifier: CA14888672
Gene:

Linked Data

dbSNP Id: rs1736148
gnomAD v2: 21-16813212-T-C
gnomAD v3: 21-15440893-T-C
gnomAD v4: 21-15440893-T-C
MyVariant Identifiers: chr21:g.16813212T>C (hg19) chr21:g.15440893T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.15440893T>C , CM000683.2:g.15440893T>C GRCh38
NC_000021.8:g.16813212T>C , CM000683.1:g.16813212T>C GRCh37
NC_000021.7:g.15735083T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_937593.1:n.552+333A>G
XR_001754965.2:n.468+3131A>G
XR_001754970.2:n.468+3131A>G
XR_001754971.2:n.468+3131A>G
Search 100 bp 5'
Search 100 bp 3'