gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001584 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86667131G>A , CM000670.2:g.86667131G>A | GRCh38 |
| NC_000008.10:g.87679359G>A , CM000670.1:g.87679359G>A | GRCh37 |
| NC_000008.9:g.87748475G>A | NCBI36 |
| NG_016980.1:g.81545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.646C>T MANE Select | ENSP00000316605.5:p.Arg216Ter | |
| ENST00000681746.1:c.646C>T | ENSP00000505959.1:p.Arg216Ter | |
| ENST00000320005.5:c.646C>T | ENSP00000316605.5:p.Arg216Ter | |
| NM_019098.4:c.646C>T | NP_061971.3:p.Arg216Ter | |
| XM_011517138.1:c.232C>T | XP_011515440.1:p.Arg78Ter | |
| XM_011517138.2:c.232C>T | XP_011515440.1:p.Arg78Ter | |
| NM_019098.5:c.646C>T MANE Select | NP_061971.3:p.Arg216Ter |