gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30234514 (EAS)
Genomes Max Group AF
0.30234514 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29397652A>G , CM000684.2:g.29397652A>G | GRCh38 |
| NC_000022.10:g.29793641A>G , CM000684.1:g.29793641A>G | GRCh37 |
| NC_000022.9:g.28123641A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650462.1:n.189-9151A>G | ||
| ENST00000415447.5:c.143+21503T>C (AP1B1) | ENSP00000387612.1:n.143+21503T>C | |
| XR_938142.1:n.528-9151A>G | ||
| XR_938146.1:n.1656-9151A>G | ||
| XR_938148.1:n.528-9151A>G | ||
| XR_938152.1:n.347+1129T>C | ||
| NM_001393612.1:c.-1210-9151A>G (RFPL1) | NP_001380541.1:n.-1210-9151A>G |