Canonical Allele Identifier: CA977151042
Gene:

Linked Data

dbSNP Id: rs1961467853
gnomAD v3: 16-49108672-A-G
gnomAD v4: 16-49108672-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108672A>G , CM000678.2:g.49108672A>G GRCh38
NC_000016.9:g.49142583A>G , CM000678.1:g.49142583A>G GRCh37
NC_000016.8:g.47700084A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1272T>C
XR_001752138.2:n.591+5304T>C
XR_933517.2:n.810+1272T>C
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