Canonical Allele Identifier: CA1083526036
Gene:

Linked Data

dbSNP Id: rs1757453751
gnomAD v3: 5-159580994-C-T
gnomAD v4: 5-159580994-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580994C>T , CM000667.2:g.159580994C>T GRCh38
NC_000005.9:g.159008001C>T , CM000667.1:g.159008001C>T GRCh37
NC_000005.8:g.158940579C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941139.1:n.2075+559C>T
XR_941140.1:n.2075+559C>T
XR_941141.1:n.570+559C>T
XR_941139.2:n.2229+559C>T
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