gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42878816 (EAS)
Genomes Max Group AF
0.43435192 (EAS)
Exomes Max Group AF
0.42007579 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52493212C>G , CM000668.2:g.52493212C>G | GRCh38 |
| NC_000006.11:g.52358010C>G , CM000668.1:g.52358010C>G | GRCh37 |
| NC_000006.10:g.52465969C>G | NCBI36 |
| NG_016760.1:g.78017C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.*871C>G MANE Select | ENSP00000360107.4:n.*871C>G | |
| ENST00000636343.1:c.1517+2862C>G | ||
| ENST00000637089.1:c.1852-2397C>G | ENSP00000489854.1:n.1852-2397C>G | |
| ENST00000637121.1:n.2596C>G | ||
| ENST00000637353.1:c.1851+2862C>G | ENSP00000490441.1:n.1851+2862C>G | |
| ENST00000637602.1:c.*1552+2862C>G | ENSP00000490074.1:n.*1552+2862C>G | |
| ENST00000371068.9:c.*871C>G | ENSP00000360107.4:n.*871C>G | |
| ENST00000538167.2:c.2737C>G | ENSP00000444521.1:n.2737C>G | |
| NM_001172420.1:c.*871C>G | NP_001165891.1:n.*871C>G | |
| NM_018100.3:c.*871C>G | NP_060570.2:n.*871C>G | |
| NR_033327.1:n.4266C>G | ||
| NM_018100.4:c.*871C>G MANE Select | NP_060570.2:n.*871C>G | |
| NM_001172420.2:c.*871C>G | NP_001165891.1:n.*871C>G | |
| NR_033327.2:n.4120C>G |