Revel Score:
ENST00000394412 (MANE Select)
0.111
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000188 (NFE)
Exomes Max Group AF
0.00000136 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89648722C>T , CM000677.2:g.89648722C>T | GRCh38 |
| NC_000015.9:g.90191953C>T , CM000677.1:g.90191953C>T | GRCh37 |
| NC_000015.8:g.87992957C>T | NCBI36 |
| NG_030338.1:g.11730G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.1099G>A | ENSP00000512678.1:p.Val367Ile | |
| ENST00000394412.8:c.976G>A MANE Select | ENSP00000377934.3:p.Val326Ile | |
| ENST00000394412.7:c.976G>A | ENSP00000377934.3:p.Val326Ile | |
| ENST00000445906.1:c.*635G>A | ENSP00000395906.1:n.*635G>A | |
| NM_198525.2:c.976G>A | NP_940927.2:p.Val326Ile | |
| XM_005254902.2:c.976G>A | XP_005254959.1:p.Val326Ile | |
| XM_011521531.1:c.1099G>A | XP_011519833.1:p.Val367Ile | |
| XM_011521532.1:c.1099G>A | XP_011519834.1:p.Val367Ile | |
| XM_011521533.1:c.1099G>A | XP_011519835.1:p.Val367Ile | |
| XM_011521534.1:c.1099G>A | XP_011519836.1:p.Val367Ile | |
| XM_011521535.1:c.1099G>A | XP_011519837.1:p.Val367Ile | |
| XM_011521536.1:c.1099G>A | XP_011519838.1:p.Val367Ile | |
| XM_011521537.1:c.1099G>A | XP_011519839.1:p.Val367Ile | |
| XM_011521531.2:c.1099G>A | XP_011519833.1:p.Val367Ile | |
| NM_198525.3:c.976G>A MANE Select | NP_940927.2:p.Val326Ile |