Canonical Allele Identifier: CA2686840892
Gene:

Linked Data

gnomAD v4: 8-31176593-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176593G>T , CM000670.2:g.31176593G>T GRCh38
NC_000008.10:g.31034109G>T , CM000670.1:g.31034109G>T GRCh37
NC_000008.9:g.31153651G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.270+4G>T
XR_949643.1:n.87+99C>A
XR_949644.1:n.87+99C>A
XR_949645.1:n.87+99C>A
XR_949646.1:n.87+99C>A
XR_949647.1:n.700+99C>A
XR_949648.1:n.602+99C>A
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