gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002951 (AMR)
Genomes Max Group AF
0.00004764 (NFE)
Exomes Max Group AF
0.00004484 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11022737T>C , CM000663.2:g.11022737T>C | GRCh38 |
| NC_000001.10:g.11082794T>C , CM000663.1:g.11082794T>C | GRCh37 |
| NC_000001.9:g.11005381T>C | NCBI36 |
| NG_008734.1:g.15116T>C , LRG_659:g.15116T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700088.1:c.1397-544A>G (MASP2) | ENSP00000514787.1:n.1397-544A>G | |
| ENST00000240185.8:c.*83T>C (TARDBP) MANE Select | ENSP00000240185.4:n.*83T>C | |
| ENST00000639083.1:c.*83T>C (TARDBP) | ENSP00000491203.1:n.*83T>C | |
| ENST00000639599.1:c.833-456T>C (TARDBP) | ENSP00000492196.1:n.833-456T>C | |
| ENST00000649624.1:c.769-456T>C (TARDBP) | ENSP00000497327.1:n.769-456T>C | |
| ENST00000240185.7:c.*83T>C (TARDBP) | ENSP00000240185.3:n.*83T>C | |
| ENST00000315091.7:c.833-456T>C (TARDBP) | ENSP00000313129.3:n.833-456T>C | |
| ENST00000439080.6:c.*909T>C (TARDBP) | ENSP00000404666.3:n.*909T>C | |
| ENST00000473869.5:c.842-456T>C (TARDBP) | ENSP00000432132.1:n.842-456T>C | |
| ENST00000477447.6:c.141-456T>C (TARDBP) | ||
| ENST00000610369.4:c.319+487T>C (TARDBP) | ENSP00000482559.1:n.319+487T>C | |
| ENST00000611136.4:c.213-456T>C | ||
| ENST00000611963.4:c.473-456T>C (TARDBP) | ENSP00000481330.1:n.473-456T>C | |
| ENST00000612542.1:c.107+487T>C | ||
| ENST00000614494.1:c.222-419T>C (TARDBP) | ||
| ENST00000614757.4:c.842-456T>C | ENSP00000481867.1:n.842-456T>C | |
| ENST00000616545.4:c.841+487T>C (TARDBP) | ENSP00000484722.1:n.841+487T>C | |
| ENST00000617172.4:c.583-456T>C (TARDBP) | ||
| ENST00000619555.4:c.393-424T>C (TARDBP) | ||
| ENST00000620505.1:c.408+22T>C (TARDBP) | ||
| ENST00000620632.4:c.393-456T>C (TARDBP) | ||
| ENST00000621573.1:c.190T>C (TARDBP) | ||
| ENST00000621790.4:c.860-456T>C (TARDBP) | ENSP00000482191.1:n.860-456T>C | |
| ENST00000622057.4:c.580-424T>C (TARDBP) | ||
| ENST00000629725.2:c.842-456T>C (TARDBP) | ENSP00000486989.1:n.842-456T>C | |
| NM_007375.3:c.*83T>C , LRG_659t1:c.*83T>C (TARDBP) | NP_031401.1:n.*83T>C | |
| XR_946596.1:n.1450T>C (TARDBP) | ||
| XR_946597.1:n.1450T>C (TARDBP) | ||
| XM_017000863.2:c.*83T>C (TARDBP) | XP_016856352.1:n.*83T>C | |
| XM_017000864.2:c.*83T>C (TARDBP) | XP_016856353.1:n.*83T>C | |
| XM_017000865.2:c.*83T>C (TARDBP) | XP_016856354.1:n.*83T>C | |
| XM_017000866.2:c.*83T>C (TARDBP) | XP_016856355.1:n.*83T>C | |
| XM_017000867.2:c.*83T>C (TARDBP) | XP_016856356.1:n.*83T>C | |
| XM_017000868.2:c.*83T>C (TARDBP) | XP_016856357.1:n.*83T>C | |
| NM_007375.4:c.*83T>C (TARDBP) MANE Select | NP_031401.1:n.*83T>C |