Canonical Allele Identifier: CA2601651223
Gene:

Linked Data

dbSNP Id: rs2110111288
gnomAD v3: 4-89598002-T-A
gnomAD v4: 4-89598002-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89598002T>A , CM000666.2:g.89598002T>A GRCh38
NC_000004.11:g.90519153T>A , CM000666.1:g.90519153T>A GRCh37
NC_000004.10:g.90738176T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.298+10062T>A
XR_938987.1:n.433-151T>A
XR_938988.1:n.299-151T>A
XR_938990.1:n.298+10062T>A
XR_938991.1:n.298+10062T>A
XR_938992.1:n.298+10062T>A
XR_938994.1:n.643+10062T>A
XR_938995.1:n.477+10062T>A
XR_938996.1:n.298+10062T>A
XR_938997.1:n.298+10062T>A
XR_938986.2:n.323+10062T>A
XR_938987.2:n.493-151T>A
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