gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005137 (SAS)
Exomes Max Group AF
0.00005395 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70432151C>T , CM000663.2:g.70432151C>T | GRCh38 |
| NC_000001.10:g.70897834C>T , CM000663.1:g.70897834C>T | GRCh37 |
| NC_000001.9:g.70670422C>T | NCBI36 |
| NG_008041.1:g.25880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370938.8:c.793C>T MANE Select | ENSP00000359976.3:p.Arg265Ter | |
| ENST00000346806.2:c.661C>T | ENSP00000311554.2:p.Arg221Ter | |
| ENST00000370938.7:c.793C>T | ENSP00000359976.3:p.Arg265Ter | |
| ENST00000411986.6:c.697C>T | ENSP00000413407.2:p.Arg233Ter | |
| NM_001190463.1:c.697C>T | NP_001177392.1:p.Arg233Ter | |
| NM_001902.5:c.793C>T | NP_001893.2:p.Arg265Ter | |
| NM_153742.4:c.661C>T | NP_714964.2:p.Arg221Ter | |
| XM_005270509.2:c.466C>T | XP_005270566.1:p.Arg156Ter | |
| XM_011540787.1:c.223C>T | XP_011539089.1:p.Arg75Ter | |
| XM_005270509.3:c.466C>T | XP_005270566.1:p.Arg156Ter | |
| XM_017000416.2:c.223C>T | XP_016855905.1:p.Arg75Ter | |
| NM_001902.6:c.793C>T MANE Select | NP_001893.2:p.Arg265Ter | |
| NM_001190463.2:c.697C>T | NP_001177392.1:p.Arg233Ter | |
| NM_153742.5:c.661C>T | NP_714964.2:p.Arg221Ter |