Canonical Allele Identifier: CA1083525906
Gene:

Linked Data

dbSNP Id: rs1757449074
gnomAD v3: 5-159580603-C-T
gnomAD v4: 5-159580603-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580603C>T , CM000667.2:g.159580603C>T GRCh38
NC_000005.9:g.159007611C>T , CM000667.1:g.159007611C>T GRCh37
NC_000005.8:g.158940189C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941139.1:n.2075+168C>T
XR_941140.1:n.2075+168C>T
XR_941141.1:n.570+168C>T
XR_941139.2:n.2229+168C>T
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