Canonical Allele Identifier: CA1118845356
Gene:

Linked Data

dbSNP Id: rs1812784248
gnomAD v3: 8-125478751-C-A
gnomAD v4: 8-125478751-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478751C>A , CM000670.2:g.125478751C>A GRCh38
NC_000008.10:g.126490993C>A , CM000670.1:g.126490993C>A GRCh37
NC_000008.9:g.126560175C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928628.1:n.256+5437C>A
Search 100 bp 5'
Search 100 bp 3'