Canonical Allele Identifier: CA946852082
Gene:

Linked Data

dbSNP Id: rs1947024549
gnomAD v3: 12-40373613-C-T
gnomAD v4: 12-40373613-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40373613C>T , CM000674.2:g.40373613C>T GRCh38
NC_000012.11:g.40767415C>T , CM000674.1:g.40767415C>T GRCh37
NC_000012.10:g.39053682C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_944868.1:n.485-18786G>A
XR_944869.1:n.485-1561G>A
XR_001749087.1:n.380-1561G>A
XR_001749088.1:n.347-1561G>A
XR_944868.2:n.485-18786G>A
XR_944869.2:n.485-1561G>A
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