Canonical Allele Identifier: CA2686840884
Gene:

Linked Data

gnomAD v4: 8-31176576-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176576C>A , CM000670.2:g.31176576C>A GRCh38
NC_000008.10:g.31034092C>A , CM000670.1:g.31034092C>A GRCh37
NC_000008.9:g.31153634C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.257C>A
XR_949643.1:n.87+116G>T
XR_949644.1:n.87+116G>T
XR_949645.1:n.87+116G>T
XR_949646.1:n.87+116G>T
XR_949647.1:n.700+116G>T
XR_949648.1:n.602+116G>T
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