Canonical Allele Identifier: CA581428687
Gene:

Linked Data

dbSNP Id: rs1328413264
gnomAD v2: 8-31034186-A-G
gnomAD v3: 8-31176670-A-G
gnomAD v4: 8-31176670-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31176670A>G , CM000670.2:g.31176670A>G GRCh38
NC_000008.10:g.31034186A>G , CM000670.1:g.31034186A>G GRCh37
NC_000008.9:g.31153728A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949642.1:n.271-72A>G
XR_949643.1:n.87+22T>C
XR_949644.1:n.87+22T>C
XR_949645.1:n.87+22T>C
XR_949646.1:n.87+22T>C
XR_949647.1:n.700+22T>C
XR_949648.1:n.602+22T>C