gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321254G>A , CM000677.2:g.89321254G>A | GRCh38 |
| NC_000015.9:g.89864485G>A , CM000677.1:g.89864485G>A | GRCh37 |
| NC_000015.8:g.87665489G>A | NCBI36 |
| NG_008218.1:g.18542C>T | |
| NG_008218.2:g.18542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2605C>T | ENSP00000516154.1:p.Arg869Ter | |
| ENST00000268124.11:c.2605C>T MANE Select | ENSP00000268124.5:p.Arg869Ter | |
| ENST00000530292.3:c.2206C>T | ENSP00000432885.2:p.Arg736Ter | |
| ENST00000635986.2:c.2605C>T | ENSP00000490653.2:p.Arg869Ter | |
| ENST00000636774.1:c.*1172C>T | ENSP00000489799.1:n.*1172C>T | |
| ENST00000637238.1:c.1302C>T | ENSP00000490756.1:n.1302C>T | |
| ENST00000637264.1:c.1677C>T | ||
| ENST00000666746.1:c.2182C>T | ||
| ENST00000670281.1:c.800+708C>T | ENSP00000499709.1:n.800+708C>T | |
| ENST00000672071.1:n.2803C>T | ||
| ENST00000672923.2:n.2547C>T | ||
| ENST00000268124.9:c.2605C>T | ENSP00000268124.5:p.Arg869Ter | |
| ENST00000442287.6:c.2605C>T | ENSP00000399851.2:p.Arg869Ter | |
| ENST00000528881.2:c.202C>T | ||
| ENST00000530715.5:c.186-385C>T | ENSP00000431395.1:n.186-385C>T | |
| ENST00000631044.2:c.*2029C>T | ENSP00000486730.1:n.*2029C>T | |
| NM_001126131.1:c.2605C>T | NP_001119603.1:p.Arg869Ter | |
| NM_002693.2:c.2605C>T | NP_002684.1:p.Arg869Ter | |
| NM_001126131.2:c.2605C>T | NP_001119603.1:p.Arg869Ter | |
| NM_002693.3:c.2605C>T MANE Select | NP_002684.1:p.Arg869Ter |