Canonical Allele Identifier: CA965996477
Gene:

Linked Data

dbSNP Id: rs1200443867
gnomAD v3: 14-92314646-C-A
gnomAD v4: 14-92314646-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92314646C>A , CM000676.2:g.92314646C>A GRCh38
NC_000014.8:g.92780990C>A , CM000676.1:g.92780990C>A GRCh37
NC_000014.7:g.91850743C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_944153.1:n.132-600C>A
Search 100 bp 5'
Search 100 bp 3'