Canonical Allele Identifier: CA1077893114
Gene:

Linked Data

dbSNP Id: rs1753647932
gnomAD v3: 5-79550013-C-A
gnomAD v4: 5-79550013-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79550013C>A , CM000667.2:g.79550013C>A GRCh38
NC_000005.9:g.78845836C>A , CM000667.1:g.78845836C>A GRCh37
NC_000005.8:g.78881592C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2369C>A
XR_948498.1:n.159+2176C>A
XR_948499.1:n.67+1711C>A
XR_948497.2:n.72+2369C>A
XR_948498.2:n.159+2176C>A
XR_948499.2:n.225+1711C>A
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