Canonical Allele Identifier: CA1085192590
Gene:

Linked Data

gnomAD v3: 6-466005-T-C
gnomAD v4: 6-466005-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.466005T>C , CM000668.2:g.466005T>C GRCh38
NC_000006.11:g.466005T>C , CM000668.1:g.466005T>C GRCh37
NC_000006.10:g.411005T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926364.1:n.2714+12280T>C
XR_926365.1:n.2548+12280T>C
XR_001743914.1:n.482-9203T>C
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