Canonical Allele Identifier: CA1112576927
Gene:

Linked Data

dbSNP Id: rs941961866
gnomAD v3: 8-33808412-G-A
gnomAD v4: 8-33808412-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808412G>A , CM000670.2:g.33808412G>A GRCh38
NC_000008.10:g.33665930G>A , CM000670.1:g.33665930G>A GRCh37
NC_000008.9:g.33785472G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11976G>A
XR_002956701.1:n.240+11976G>A
Search 100 bp 5'
Search 100 bp 3'