Canonical Allele Identifier: CA937524950
Gene:

Linked Data

dbSNP Id: rs1856779008
gnomAD v3: 11-45506665-G-A
gnomAD v4: 11-45506665-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45506665G>A , CM000673.2:g.45506665G>A GRCh38
NC_000011.9:g.45528215G>A , CM000673.1:g.45528215G>A GRCh37
NC_000011.8:g.45484791G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001748204.2:n.909-16894C>T
XR_931245.3:n.566-16894C>T
Search 100 bp 5'
Search 100 bp 3'