Canonical Allele Identifier: CA1116344354
Gene:

Linked Data

dbSNP Id: rs1810443111
gnomAD v3: 8-88535802-G-C
gnomAD v4: 8-88535802-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88535802G>C , CM000670.2:g.88535802G>C GRCh38
NC_000008.10:g.89548031G>C , CM000670.1:g.89548031G>C GRCh37
NC_000008.9:g.89617147G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745651.2:n.1673+10715C>G
XR_001745653.2:n.286-6878G>C
XR_928383.3:n.1475+10715C>G
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