gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00024272 (AFR)
Genomes Max Group AF
0.0002802 (AFR)
Exomes Max Group AF
0.00011831 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120962749G>A , CM000671.2:g.120962749G>A | GRCh38 |
| NC_000009.11:g.123725027G>A , CM000671.1:g.123725027G>A | GRCh37 |
| NC_000009.10:g.122764848G>A | NCBI36 |
| NG_007364.1:g.92528C>T , LRG_28:g.92528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1460C>T | ||
| ENST00000696279.1:c.4746C>T | ||
| ENST00000696280.1:n.4515C>T | ||
| ENST00000696281.1:c.4444C>T | ENSP00000512521.1:p.Arg1482Ter | |
| ENST00000697921.1:n.3304C>T | ||
| ENST00000697922.1:c.*4416C>T | ENSP00000513478.1:n.*4416C>T | |
| ENST00000697923.1:n.4871C>T | ||
| ENST00000223642.3:c.4426C>T MANE Select | ENSP00000223642.1:p.Arg1476Ter | |
| ENST00000223642.2:c.4426C>T | ENSP00000223642.1:p.Arg1476Ter | |
| NM_001735.2:c.4426C>T , LRG_28t1:c.4426C>T | NP_001726.2:p.Arg1476Ter | |
| XM_011518980.1:c.4441C>T | XP_011517282.1:p.Arg1481Ter | |
| NM_001317163.1:c.4444C>T | NP_001304092.1:p.Arg1482Ter | |
| NM_001317163.2:c.4444C>T | NP_001304092.1:p.Arg1482Ter | |
| NM_001735.3:c.4426C>T MANE Select | NP_001726.2:p.Arg1476Ter |