Canonical Allele Identifier: CA1083526076
Gene:

Linked Data

dbSNP Id: rs1757454132
gnomAD v3: 5-159581023-A-G
gnomAD v4: 5-159581023-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159581023A>G , CM000667.2:g.159581023A>G GRCh38
NC_000005.9:g.159008030A>G , CM000667.1:g.159008030A>G GRCh37
NC_000005.8:g.158940608A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941139.1:n.2075+588A>G
XR_941140.1:n.2075+588A>G
XR_941141.1:n.570+588A>G
XR_941139.2:n.2229+588A>G
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