Canonical Allele Identifier: CA1085752625
Gene:

Linked Data

dbSNP Id: rs1759196040
gnomAD v3: 6-8169817-G-A
gnomAD v4: 6-8169817-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169817G>A , CM000668.2:g.8169817G>A GRCh38
NC_000006.11:g.8170050G>A , CM000668.1:g.8170050G>A GRCh37
NC_000006.10:g.8115049G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11557G>A
XR_926441.1:n.189+1897G>A
XR_926442.1:n.82+11557G>A
XR_926443.1:n.82+11557G>A
XR_001743950.1:n.179+1897G>A
XR_926440.2:n.74+11557G>A
XR_926441.2:n.179+1897G>A
XR_926443.2:n.83+11557G>A
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