Canonical Allele Identifier: CA1083526090
Gene:

Linked Data

dbSNP Id: rs1757454465
gnomAD v3: 5-159581052-T-A
gnomAD v4: 5-159581052-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159581052T>A , CM000667.2:g.159581052T>A GRCh38
NC_000005.9:g.159008059T>A , CM000667.1:g.159008059T>A GRCh37
NC_000005.8:g.158940637T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941139.1:n.2075+617T>A
XR_941140.1:n.2075+617T>A
XR_941141.1:n.570+617T>A
XR_941139.2:n.2229+617T>A
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