Canonical Allele Identifier: CA1118643465
Gene:

Linked Data

dbSNP Id: rs1814952389
gnomAD v3: 8-122396230-A-T
gnomAD v4: 8-122396230-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122396230A>T , CM000670.2:g.122396230A>T GRCh38
NC_000008.10:g.123408469A>T , CM000670.1:g.123408469A>T GRCh37
NC_000008.9:g.123477650A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+2942T>A
XR_928599.3:n.152+2942T>A
Search 100 bp 5'
Search 100 bp 3'