gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002555 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00002285 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281139G>A , CM000683.2:g.18281139G>A | GRCh38 |
| NC_000021.8:g.19653456G>A , CM000683.1:g.19653456G>A | GRCh37 |
| NC_000021.7:g.18575327G>A | NCBI36 |
| NG_012207.1:g.127515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2569C>T MANE Select | ENSP00000284885.3:p.Arg857Ter | |
| ENST00000284885.7:c.2569C>T | ENSP00000284885.3:p.Arg857Ter | |
| NM_002772.2:c.2569C>T | NP_002763.2:p.Arg857Ter | |
| XM_011529654.1:c.2704C>T | XP_011527956.1:p.Arg902Ter | |
| XM_011529655.1:c.2704C>T | XP_011527957.1:p.Arg902Ter | |
| XM_011529656.1:c.2704C>T | XP_011527958.1:p.Arg902Ter | |
| XM_011529657.1:c.2659C>T | XP_011527959.1:p.Arg887Ter | |
| XM_011529658.1:c.2623C>T | XP_011527960.1:p.Arg875Ter | |
| XM_011529659.1:c.2614C>T | XP_011527961.1:p.Arg872Ter | |
| XM_011529654.2:c.2704C>T | XP_011527956.1:p.Arg902Ter | |
| XM_011529656.2:c.2704C>T | XP_011527958.1:p.Arg902Ter | |
| XM_011529657.2:c.2659C>T | XP_011527959.1:p.Arg887Ter | |
| XM_011529658.2:c.2623C>T | XP_011527960.1:p.Arg875Ter | |
| NM_002772.3:c.2569C>T MANE Select | NP_002763.3:p.Arg857Ter |