Canonical Allele Identifier: CA1121377261
Gene:

Linked Data

dbSNP Id: rs1824909399
gnomAD v3: 9-12108941-G-A
gnomAD v4: 9-12108941-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12108941G>A , CM000671.2:g.12108941G>A GRCh38
NC_000009.11:g.12108941G>A , CM000671.1:g.12108941G>A GRCh37
NC_000009.10:g.12098941G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929481.1:n.166+7880C>T
XR_929482.1:n.260+7880C>T
XR_929481.2:n.166+7880C>T
XR_929482.2:n.260+7880C>T
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