Canonical Allele Identifier: CA1038979649
Gene:

Linked Data

dbSNP Id: rs1691191564
gnomAD v3: 2-168260477-G-T
gnomAD v4: 2-168260477-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168260477G>T , CM000664.2:g.168260477G>T GRCh38
NC_000002.11:g.169116987G>T , CM000664.1:g.169116987G>T GRCh37
NC_000002.10:g.168825233G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739763.1:n.912-4619G>T
XR_001739764.1:n.318-4619G>T
XR_001739765.1:n.436-4619G>T
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