Canonical Allele Identifier: CA950002259
Gene:

Linked Data

dbSNP Id: rs1874801354
gnomAD v3: 12-84952014-T-A
gnomAD v4: 12-84952014-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.84952014T>A , CM000674.2:g.84952014T>A GRCh38
NC_000012.11:g.85345793T>A , CM000674.1:g.85345793T>A GRCh37
NC_000012.10:g.83869924T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945152.1:n.316+30700T>A
XR_945153.1:n.301+13550T>A
XR_945154.1:n.175-36928T>A
XR_945155.1:n.330+30700T>A
XR_945152.2:n.316+30700T>A
XR_945154.2:n.175-36928T>A
XR_945155.2:n.888+30700T>A
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