Canonical Allele Identifier: CA951207947
Gene:

Linked Data

dbSNP Id: rs1881755355
gnomAD v3: 12-102501453-G-A
gnomAD v4: 12-102501453-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102501453G>A , CM000674.2:g.102501453G>A GRCh38
NC_000012.11:g.102895231G>A , CM000674.1:g.102895231G>A GRCh37
NC_000012.10:g.101419361G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001749289.1:n.1952+17565G>A
Search 100 bp 5'
Search 100 bp 3'