dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43207575 (EAS)
Genomes Max Group AF
0.43238688 (EAS)
Exomes Max Group AF
0.33173481 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44351775C>G , CM000682.2:g.44351775C>G | GRCh38 |
| NC_000020.10:g.42980415C>G , CM000682.1:g.42980415C>G | GRCh37 |
| NC_000020.9:g.42413829C>G | NCBI36 |
| NG_009818.1:g.975C>G , LRG_483:g.975C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936745.1:n.486+93G>C | ||
| XR_936746.1:n.490+93G>C | ||
| XR_936747.1:n.405+93G>C | ||
| XR_936748.1:n.278+93G>C | ||
| XR_936749.1:n.490+93G>C | ||
| XR_936750.1:n.285+93G>C | ||
| XR_001754617.2:n.497+93G>C | ||
| XR_001754618.1:n.497+93G>C | ||
| XR_936745.2:n.497+93G>C | ||
| XR_936746.2:n.497+93G>C | ||
| XR_936747.3:n.466+93G>C | ||
| XR_936748.3:n.277+93G>C | ||
| XR_936749.3:n.497+93G>C | ||
| XR_936750.3:n.345+93G>C |