Revel Score:
ENST00000339797
0.804
ENST00000351556
0.804
ENST00000395559
0.804
ENST00000337653 (MANE Select)
0.804
ENST00000395562
0.804
ENST00000455728
0.804
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007739 (NFE)
Genomes Max Group AF
0.00006803 (NFE)
Exomes Max Group AF
0.00007453 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49619743G>A , CM000672.2:g.49619743G>A | GRCh38 |
| NC_000010.10:g.50827789G>A , CM000672.1:g.50827789G>A | GRCh37 |
| NC_000010.9:g.50497795G>A | NCBI36 |
| NG_011797.1:g.15649G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337653.7:c.406G>A MANE Select | ENSP00000337103.2:p.Val136Met | |
| ENST00000337653.6:c.406G>A | ENSP00000337103.2:p.Val136Met | |
| ENST00000339797.5:c.52G>A | ENSP00000343486.1:p.Val18Met | |
| ENST00000351556.7:c.52G>A | ENSP00000345878.3:p.Val18Met | |
| ENST00000395559.6:c.52G>A | ENSP00000378926.2:p.Val18Met | |
| ENST00000395562.2:c.160G>A | ENSP00000378929.2:p.Val54Met | |
| ENST00000460699.5:n.387G>A | ||
| ENST00000466590.6:c.*137G>A | ENSP00000473443.1:n.*137G>A | |
| ENST00000481336.5:n.204G>A | ||
| ENST00000490270.1:n.456G>A | ||
| NM_001142929.1:c.52G>A | NP_001136401.1:p.Val18Met | |
| NM_001142933.1:c.160G>A | NP_001136405.1:p.Val54Met | |
| NM_001142934.1:c.52G>A | NP_001136406.1:p.Val18Met | |
| NM_020549.4:c.406G>A | NP_065574.3:p.Val136Met | |
| NM_020984.3:c.52G>A | NP_066264.3:p.Val18Met | |
| NM_020985.3:c.52G>A | NP_066265.3:p.Val18Met | |
| NM_020986.3:c.52G>A | NP_066266.3:p.Val18Met | |
| NM_001142929.2:c.52G>A | NP_001136401.2:p.Val18Met | |
| NM_001142933.2:c.160G>A | NP_001136405.2:p.Val54Met | |
| NM_001142934.2:c.52G>A | NP_001136406.2:p.Val18Met | |
| NM_020549.5:c.406G>A MANE Select | NP_065574.4:p.Val136Met | |
| NM_020984.4:c.52G>A | NP_066264.4:p.Val18Met | |
| NM_020985.4:c.52G>A | NP_066265.4:p.Val18Met | |
| NM_020986.4:c.52G>A | NP_066266.4:p.Val18Met |