Canonical Allele Identifier: CA950002286
Gene:

Linked Data

dbSNP Id: rs1565747713
gnomAD v3: 12-84952159-T-A
gnomAD v4: 12-84952159-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.84952159T>A , CM000674.2:g.84952159T>A GRCh38
NC_000012.11:g.85345938T>A , CM000674.1:g.85345938T>A GRCh37
NC_000012.10:g.83870069T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945152.1:n.316+30845T>A
XR_945153.1:n.301+13695T>A
XR_945154.1:n.175-36783T>A
XR_945155.1:n.330+30845T>A
XR_945152.2:n.316+30845T>A
XR_945154.2:n.175-36783T>A
XR_945155.2:n.888+30845T>A
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