gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001757 (AFR)
Genomes Max Group AF
0.00000811 (AFR)
Exomes Max Group AF
0.00000991 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165752166G>A , CM000663.2:g.165752166G>A | GRCh38 |
| NC_000001.10:g.165721403G>A , CM000663.1:g.165721403G>A | GRCh37 |
| NC_000001.9:g.163988027G>A | NCBI36 |
| NG_032004.1:g.21757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367881.11:c.259C>T MANE Select | ENSP00000356856.6:p.Arg87Ter | |
| ENST00000465705.4:c.*90C>T | ENSP00000463105.2:n.*90C>T | |
| ENST00000476143.7:c.*49C>T | ENSP00000464127.2:n.*49C>T | |
| ENST00000367881.9:c.412C>T | ENSP00000356856.5:p.Arg138Ter | |
| ENST00000392129.10:c.259C>T | ENSP00000375975.5:p.Arg87Ter | |
| ENST00000464650.5:c.7C>T | ENSP00000463951.1:p.Arg3Ter | |
| ENST00000465705.3:c.*90C>T | ENSP00000463105.1:n.*90C>T | |
| ENST00000476143.6:c.336C>T | ||
| ENST00000481278.5:c.223C>T | ENSP00000462300.1:p.Arg75Ter | |
| ENST00000580248.5:c.7C>T | ENSP00000462588.1:p.Arg3Ter | |
| ENST00000612311.4:c.412C>T | ENSP00000480514.1:p.Arg138Ter | |
| NM_001256164.1:c.310C>T | NP_001243093.1:p.Arg104Ter | |
| NM_001256165.1:c.223C>T | NP_001243094.1:p.Arg75Ter | |
| NM_019026.4:c.412C>T | NP_061899.2:p.Arg138Ter | |
| NR_045818.1:n.353C>T | ||
| NM_001366129.1:c.259C>T | NP_001353058.1:p.Arg87Ter | |
| NM_019026.5:c.259C>T | NP_061899.3:p.Arg87Ter | |
| NM_019026.6:c.259C>T MANE Select | NP_061899.3:p.Arg87Ter |