Canonical Allele Identifier: CA1085752603
Gene:

Linked Data

dbSNP Id: rs1759190933
gnomAD v3: 6-8169491-C-A
gnomAD v4: 6-8169491-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169491C>A , CM000668.2:g.8169491C>A GRCh38
NC_000006.11:g.8169724C>A , CM000668.1:g.8169724C>A GRCh37
NC_000006.10:g.8114723C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11231C>A
XR_926441.1:n.189+1571C>A
XR_926442.1:n.82+11231C>A
XR_926443.1:n.82+11231C>A
XR_001743950.1:n.179+1571C>A
XR_926440.2:n.74+11231C>A
XR_926441.2:n.179+1571C>A
XR_926443.2:n.83+11231C>A
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