Canonical Allele Identifier: CA936775765
Gene:

Linked Data

dbSNP Id: rs1851772985
gnomAD v3: 11-34812356-C-A
gnomAD v4: 11-34812356-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34812356C>A , CM000673.2:g.34812356C>A GRCh38
NC_000011.9:g.34833903C>A , CM000673.1:g.34833903C>A GRCh37
NC_000011.8:g.34790479C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_428897.2:n.579+57749C>A
XR_931188.1:n.693+57749C>A
XR_931189.1:n.854+57749C>A
XR_931190.1:n.639+57749C>A
XR_931191.1:n.689+57749C>A
XR_001748174.1:n.855+57749C>A
XR_001748176.1:n.1016+57749C>A
XR_002957246.1:n.639+57749C>A
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