gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30569475 (EAS)
Genomes Max Group AF
0.30569475 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71166082G>C , CM000674.2:g.71166082G>C | GRCh38 |
| NC_000012.11:g.71559862G>C , CM000674.1:g.71559862G>C | GRCh37 |
| NC_000012.10:g.69846129G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393330.6:c.-109-8295C>G | ENSP00000377003.2:n.-109-8295C>G | |
| ENST00000549421.1:n.207-8295C>G |