Canonical Allele Identifier: CA2591630736
Gene:

Linked Data

dbSNP Id: rs2113710182
gnomAD v3: 6-8169729-T-C
gnomAD v4: 6-8169729-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169729T>C , CM000668.2:g.8169729T>C GRCh38
NC_000006.11:g.8169962T>C , CM000668.1:g.8169962T>C GRCh37
NC_000006.10:g.8114961T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11469T>C
XR_926441.1:n.189+1809T>C
XR_926442.1:n.82+11469T>C
XR_926443.1:n.82+11469T>C
XR_001743950.1:n.179+1809T>C
XR_926440.2:n.74+11469T>C
XR_926441.2:n.179+1809T>C
XR_926443.2:n.83+11469T>C
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