Canonical Allele Identifier: CA1077893108
Gene:

Linked Data

dbSNP Id: rs1753647847
gnomAD v3: 5-79550002-G-A
gnomAD v4: 5-79550002-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79550002G>A , CM000667.2:g.79550002G>A GRCh38
NC_000005.9:g.78845825G>A , CM000667.1:g.78845825G>A GRCh37
NC_000005.8:g.78881581G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948497.1:n.72+2358G>A
XR_948498.1:n.159+2165G>A
XR_948499.1:n.67+1700G>A
XR_948497.2:n.72+2358G>A
XR_948498.2:n.159+2165G>A
XR_948499.2:n.225+1700G>A
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