Canonical Allele Identifier: CA287548407
Gene:

Linked Data

dbSNP Id: rs902521859
gnomAD v2: 17-8040525-C-T
gnomAD v3: 17-8137207-C-T
gnomAD v4: 17-8137207-C-T
MyVariant Identifiers: chr17:g.8040525C>T (hg19) chr17:g.8137207C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137207C>T , CM000679.2:g.8137207C>T GRCh38
NC_000017.10:g.8040525C>T , CM000679.1:g.8040525C>T GRCh37
NC_000017.9:g.7981250C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1642C>T
XR_934203.1:n.70-2270C>T
XR_934202.2:n.414-1642C>T
Search 100 bp 5'
Search 100 bp 3'