Canonical Allele Identifier: CA981245771
Gene:

Linked Data

dbSNP Id: rs1981893197
gnomAD v3: 17-8137549-G-T
gnomAD v4: 17-8137549-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137549G>T , CM000679.2:g.8137549G>T GRCh38
NC_000017.10:g.8040867G>T , CM000679.1:g.8040867G>T GRCh37
NC_000017.9:g.7981592G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1300G>T
XR_934203.1:n.70-1928G>T
XR_934202.2:n.414-1300G>T
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