Canonical Allele Identifier: CA1038979660
Gene:

Linked Data

dbSNP Id: rs1691191917
gnomAD v3: 2-168260508-C-G
gnomAD v4: 2-168260508-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168260508C>G , CM000664.2:g.168260508C>G GRCh38
NC_000002.11:g.169117018C>G , CM000664.1:g.169117018C>G GRCh37
NC_000002.10:g.168825264C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001739763.1:n.912-4588C>G
XR_001739764.1:n.318-4588C>G
XR_001739765.1:n.436-4588C>G
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