gnomAD v4:
Joint Max Group AF
0.00001201 (AFR)
Exomes Max Group AF
0.0000321 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11023351G>A , CM000663.2:g.11023351G>A | GRCh38 |
| NC_000001.10:g.11083408G>A , CM000663.1:g.11083408G>A | GRCh37 |
| NC_000001.9:g.11005995G>A | NCBI36 |
| NG_008734.1:g.15730G>A , LRG_659:g.15730G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700088.1:c.1397-1158C>T (MASP2) | ENSP00000514787.1:n.1397-1158C>T | |
| ENST00000240185.8:c.*697G>A (TARDBP) MANE Select | ENSP00000240185.4:n.*697G>A | |
| ENST00000639083.1:c.*697G>A (TARDBP) | ENSP00000491203.1:n.*697G>A | |
| ENST00000639599.1:c.*81+22G>A (TARDBP) | ENSP00000492196.1:n.*81+22G>A | |
| ENST00000240185.7:c.*697G>A (TARDBP) | ENSP00000240185.3:n.*697G>A | |
| ENST00000315091.7:c.*103G>A (TARDBP) | ENSP00000313129.3:n.*103G>A | |
| ENST00000473869.5:c.*81+22G>A (TARDBP) | ENSP00000432132.1:n.*81+22G>A | |
| ENST00000477447.6:c.277+22G>A (TARDBP) | ||
| ENST00000496840.1:c.132+22G>A (TARDBP) | ENSP00000467020.1:n.132+22G>A | |
| ENST00000610369.4:c.386+22G>A (TARDBP) | ENSP00000482559.1:n.386+22G>A | |
| ENST00000611008.4:n.512+22G>A (TARDBP) | ||
| ENST00000611136.4:c.349+22G>A | ||
| ENST00000611963.4:c.609+22G>A (TARDBP) | ENSP00000481330.1:n.609+22G>A | |
| ENST00000612542.1:c.107+1101G>A | ||
| ENST00000613177.1:n.285+22G>A (TARDBP) | ||
| ENST00000614494.1:c.395+22G>A (TARDBP) | ||
| ENST00000614757.4:c.*81+22G>A | ENSP00000481867.1:n.*81+22G>A | |
| ENST00000617172.4:c.741G>A (TARDBP) | ||
| ENST00000617757.1:n.29G>A (TARDBP) | ||
| ENST00000619555.4:c.561+22G>A (TARDBP) | ||
| ENST00000620505.1:c.545+22G>A (TARDBP) | ||
| ENST00000620632.4:c.529+22G>A (TARDBP) | ||
| ENST00000621573.1:c.782+22G>A (TARDBP) | ||
| ENST00000622108.1:c.132+22G>A | ENSP00000480398.1:n.132+22G>A | |
| NM_007375.3:c.*697G>A , LRG_659t1:c.*697G>A (TARDBP) | NP_031401.1:n.*697G>A | |
| XR_946596.1:n.2042+22G>A (TARDBP) | ||
| XR_946597.1:n.2042+22G>A (TARDBP) | ||
| XM_017000863.2:c.*697G>A (TARDBP) | XP_016856352.1:n.*697G>A | |
| XM_017000864.2:c.*697G>A (TARDBP) | XP_016856353.1:n.*697G>A | |
| XM_017000865.2:c.*697G>A (TARDBP) | XP_016856354.1:n.*697G>A | |
| XM_017000866.2:c.*675+22G>A (TARDBP) | XP_016856355.1:n.*675+22G>A | |
| XM_017000867.2:c.*675+22G>A (TARDBP) | XP_016856356.1:n.*675+22G>A | |
| XM_017000868.2:c.*675+22G>A (TARDBP) | XP_016856357.1:n.*675+22G>A | |
| NM_007375.4:c.*697G>A (TARDBP) MANE Select | NP_031401.1:n.*697G>A |