Canonical Allele Identifier: CA2686840878
Gene:

Linked Data

gnomAD v4: 8-31176557-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176557A>G , CM000670.2:g.31176557A>G GRCh38
NC_000008.10:g.31034073A>G , CM000670.1:g.31034073A>G GRCh37
NC_000008.9:g.31153615A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.238A>G
XR_949643.1:n.87+135T>C
XR_949644.1:n.87+135T>C
XR_949645.1:n.87+135T>C
XR_949646.1:n.87+135T>C
XR_949647.1:n.700+135T>C
XR_949648.1:n.602+135T>C
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