gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49441022 (EAS)
Genomes Max Group AF
0.49441022 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.122159482A>G , CM000673.2:g.122159482A>G | GRCh38 |
| NC_000011.9:g.122030190A>G , CM000673.1:g.122030190A>G | GRCh37 |
| NC_000011.8:g.121535400A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024430.1:n.363-3850T>C | ||
| NR_024430.2:n.410-3850T>C | ||
| NR_137179.1:n.364-3850T>C | ||
| NR_137180.1:n.422-3850T>C | ||
| NR_137181.1:n.409+20854T>C | ||
| NR_137182.1:n.410-3850T>C | ||
| NR_137183.1:n.298-3850T>C | ||
| NR_137184.1:n.297+20854T>C | ||
| NR_137185.1:n.298-3850T>C | ||
| NR_137192.1:n.676+20854T>C | ||
| NR_137193.1:n.422-3850T>C |