Canonical Allele Identifier: CA1139002124
Gene:

Linked Data

dbSNP Id: rs2014116901
gnomAD v3: Y-7680964-C-A
gnomAD v4: Y-7680964-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7680964C>A , CM000686.2:g.7680964C>A GRCh38
NC_000024.9:g.7549005C>A , CM000686.1:g.7549005C>A GRCh37
NC_000024.8:g.7609005C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000439805.1:n.617-19C>A
Search 100 bp 5'
Search 100 bp 3'