Canonical Allele Identifier: CA688740737
Gene:

Linked Data

dbSNP Id: rs1343735327
gnomAD v3: 12-40373535-T-C
gnomAD v4: 12-40373535-T-C
MyVariant Identifiers: chr12:g.40767337T>C (hg19) chr12:g.40373535T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40373535T>C , CM000674.2:g.40373535T>C GRCh38
NC_000012.11:g.40767337T>C , CM000674.1:g.40767337T>C GRCh37
NC_000012.10:g.39053604T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_944868.1:n.485-18708A>G
XR_944869.1:n.485-1483A>G
XR_001749087.1:n.380-1483A>G
XR_001749088.1:n.347-1483A>G
XR_944868.2:n.485-18708A>G
XR_944869.2:n.485-1483A>G
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