Canonical Allele Identifier: CA11373592
Gene: ATOSBP1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.114232449C>G
GRCh37 chr3:g.113951296C>G
gnomAD v2:
3:113951296 C / G
gnomAD v3:
3:114232449 C / G
gnomAD v4:
chr3-114232449-C-G
Joint Max Group AF 0.78641549 (AFR)
Genomes Max Group AF 0.78518065 (AFR)
Exomes Max Group AF 0.77985959 (AFR)
dbSNP:
905568
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.114232449C>G , CM000665.2:g.114232449C>G GRCh38
NC_000003.11:g.113951296C>G , CM000665.1:g.113951296C>G GRCh37
NC_000003.10:g.115433986C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000473625.1:n.573G>C
XR_001740856.1:n.161-893C>G
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