Canonical Allele Identifier: CA2595183510
Gene:

Linked Data

dbSNP Id: rs2137069988
gnomAD v3: 12-40373563-G-A
gnomAD v4: 12-40373563-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40373563G>A , CM000674.2:g.40373563G>A GRCh38
NC_000012.11:g.40767365G>A , CM000674.1:g.40767365G>A GRCh37
NC_000012.10:g.39053632G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_944868.1:n.485-18736C>T
XR_944869.1:n.485-1511C>T
XR_001749087.1:n.380-1511C>T
XR_001749088.1:n.347-1511C>T
XR_944868.2:n.485-18736C>T
XR_944869.2:n.485-1511C>T
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