Revel Score:
ENST00000279593
0.136
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13562926C>T , CM000674.2:g.13562926C>T | GRCh38 |
| NC_000012.11:g.13715860C>T , CM000674.1:g.13715860C>T | GRCh37 |
| NC_000012.10:g.13607127C>T | NCBI36 |
| NG_031854.1:g.422163G>A | |
| NG_031854.2:g.424087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.4312G>A MANE Select | ENSP00000477455.1:p.Val1438Met | |
| ENST00000637214.1:c.69+45677G>A | ENSP00000489997.1:n.69+45677G>A | |
| ENST00000609686.3:c.4312G>A | ENSP00000477455.1:p.Val1438Met | |
| ENST00000628166.1:n.2572G>A | ||
| NM_000834.3:c.4312G>A | NP_000825.2:p.Val1438Met | |
| XM_005253351.2:c.2098G>A | XP_005253408.1:p.Val700Met | |
| XM_011520628.1:c.4312G>A | XP_011518930.1:p.Val1438Met | |
| XM_011520629.1:c.4312G>A | XP_011518931.1:p.Val1438Met | |
| XM_011520630.1:c.4312G>A | XP_011518932.1:p.Val1438Met | |
| NM_000834.4:c.4312G>A | NP_000825.2:p.Val1438Met | |
| XM_005253351.3:c.2098G>A | XP_005253408.1:p.Val700Met | |
| XM_011520628.2:c.4312G>A | XP_011518930.1:p.Val1438Met | |
| XM_011520629.2:c.4312G>A | XP_011518931.1:p.Val1438Met | |
| XM_017019219.2:c.4312G>A | XP_016874708.1:p.Val1438Met | |
| NM_000834.5:c.4312G>A MANE Select | NP_000825.2:p.Val1438Met |