Canonical Allele Identifier: CA946852066
Gene:

Linked Data

gnomAD v3: 12-40373543-C-A
gnomAD v4: 12-40373543-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40373543C>A , CM000674.2:g.40373543C>A GRCh38
NC_000012.11:g.40767345C>A , CM000674.1:g.40767345C>A GRCh37
NC_000012.10:g.39053612C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_944868.1:n.485-18716G>T
XR_944869.1:n.485-1491G>T
XR_001749087.1:n.380-1491G>T
XR_001749088.1:n.347-1491G>T
XR_944868.2:n.485-18716G>T
XR_944869.2:n.485-1491G>T
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