Canonical Allele Identifier: CA1112378864
Gene:

Linked Data

dbSNP Id: rs1804275225
gnomAD v3: 8-31176604-A-G
gnomAD v4: 8-31176604-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176604A>G , CM000670.2:g.31176604A>G GRCh38
NC_000008.10:g.31034120A>G , CM000670.1:g.31034120A>G GRCh37
NC_000008.9:g.31153662A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949642.1:n.270+15A>G
XR_949643.1:n.87+88T>C
XR_949644.1:n.87+88T>C
XR_949645.1:n.87+88T>C
XR_949646.1:n.87+88T>C
XR_949647.1:n.700+88T>C
XR_949648.1:n.602+88T>C
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