Canonical Allele Identifier: CA12867837
Gene:

Linked Data

dbSNP Id: rs2450115
gnomAD v2: 8-117624093-T-C
gnomAD v3: 8-116611854-T-C
gnomAD v4: 8-116611854-T-C
MyVariant Identifiers: chr8:g.117624093T>C (hg19) chr8:g.116611854T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.116611854T>C , CM000670.2:g.116611854T>C GRCh38
NC_000008.10:g.117624093T>C , CM000670.1:g.117624093T>C GRCh37
NC_000008.9:g.117693274T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928553.1:n.374-3162T>C
XR_928553.2:n.374-3162T>C
Search 100 bp 5'
Search 100 bp 3'