Canonical Allele Identifier: CA1038979706
Gene:

Linked Data

dbSNP Id: rs759048836
gnomAD v3: 2-168260610-G-A
gnomAD v4: 2-168260610-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168260610G>A , CM000664.2:g.168260610G>A GRCh38
NC_000002.11:g.169117120G>A , CM000664.1:g.169117120G>A GRCh37
NC_000002.10:g.168825366G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739763.1:n.912-4486G>A
XR_001739764.1:n.318-4486G>A
XR_001739765.1:n.436-4486G>A
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