Canonical Allele Identifier: CA981245825
Gene:

Linked Data

dbSNP Id: rs1981897646
gnomAD v3: 17-8137834-G-C
gnomAD v4: 17-8137834-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137834G>C , CM000679.2:g.8137834G>C GRCh38
NC_000017.10:g.8041152G>C , CM000679.1:g.8041152G>C GRCh37
NC_000017.9:g.7981877G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1015G>C
XR_934203.1:n.70-1643G>C
XR_934202.2:n.414-1015G>C
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