Canonical Allele Identifier: CA1116376171
Gene:

Linked Data

dbSNP Id: rs1808587807
gnomAD v3: 8-88981331-A-G
gnomAD v4: 8-88981331-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88981331A>G , CM000670.2:g.88981331A>G GRCh38
NC_000008.10:g.89993560A>G , CM000670.1:g.89993560A>G GRCh37
NC_000008.9:g.90062676A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956667.1:n.179-99270T>C
Search 100 bp 5'
Search 100 bp 3'