Canonical Allele Identifier: CA1109769913
Gene:

Linked Data

dbSNP Id: rs1304166311
gnomAD v3: 8-2882986-C-A
gnomAD v4: 8-2882986-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.2882986C>A , CM000670.2:g.2882986C>A GRCh38
NC_000008.10:g.2740508C>A , CM000670.1:g.2740508C>A GRCh37
NC_000008.9:g.2727915C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941367.1:n.212-42779C>A
NR_168441.1:n.1166+45222C>A
NR_168442.1:n.1331-33349C>A
NR_168443.1:n.1171+45222C>A
NR_168444.1:n.1166+45222C>A
NR_168445.1:n.1249+45139C>A
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