gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000122 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39967713C>T , CM000677.2:g.39967713C>T | GRCh38 |
| NC_000015.9:g.40259914C>T , CM000677.1:g.40259914C>T | GRCh37 |
| NC_000015.8:g.38047206C>T | NCBI36 |
| NG_034053.1:g.38590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.1387C>T MANE Select | ENSP00000263791.5:p.Arg463Ter | |
| ENST00000263791.9:c.1387C>T | ENSP00000263791.5:p.Arg463Ter | |
| ENST00000559624.5:c.1387C>T | ENSP00000453148.1:p.Arg463Ter | |
| ENST00000560855.5:c.803C>T | ||
| NM_001013703.3:c.1387C>T | NP_001013725.2:p.Arg463Ter | |
| XM_005254392.1:c.1387C>T | XP_005254449.1:p.Arg463Ter | |
| XM_011521599.1:c.1387C>T | XP_011519901.1:p.Arg463Ter | |
| XM_011521600.1:c.1387C>T | XP_011519902.1:p.Arg463Ter | |
| XM_005254392.3:c.1387C>T | XP_005254449.1:p.Arg463Ter | |
| XM_011521599.2:c.1387C>T | XP_011519901.1:p.Arg463Ter | |
| XM_011521600.3:c.1387C>T | XP_011519902.1:p.Arg463Ter | |
| XM_017022219.2:c.1387C>T | XP_016877708.1:p.Arg463Ter | |
| NM_001013703.4:c.1387C>T MANE Select | NP_001013725.2:p.Arg463Ter |