Canonical Allele Identifier: CA2596854043
Gene:

Linked Data

dbSNP Id: rs2115644517
gnomAD v3: 7-46353000-G-A
gnomAD v4: 7-46353000-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.46353000G>A , CM000669.2:g.46353000G>A GRCh38
NC_000007.13:g.46392598G>A , CM000669.1:g.46392598G>A GRCh37
NC_000007.12:g.46359123G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927241.1:n.3169G>A
XR_927242.1:n.3077G>A
XR_927241.2:n.3169G>A
XR_927242.2:n.3134G>A
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