Revel Score:
ENST00000397274
0.034
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000257 (NFE)
Exomes Max Group AF
0.00000203 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17192965T>A , CM000681.2:g.17192965T>A | GRCh38 |
| NC_000019.9:g.17303774T>A , CM000681.1:g.17303774T>A | GRCh37 |
| NC_000019.8:g.17164774T>A | NCBI36 |
| NG_013068.1:g.122184T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682292.1:c.3031T>A MANE Select | ENSP00000507803.1:p.Ser1011Thr | |
| ENST00000397274.6:c.3031T>A | ENSP00000380444.2:p.Ser1011Thr | |
| ENST00000594824.5:c.3031T>A | ENSP00000471367.1:p.Ser1011Thr | |
| ENST00000595618.5:c.3031T>A | ENSP00000471457.1:p.Ser1011Thr | |
| ENST00000595641.5:c.3031T>A | ENSP00000472915.1:p.Ser1011Thr | |
| NM_001130065.1:c.3031T>A | NP_001123537.1:p.Ser1011Thr | |
| NM_004145.3:c.3031T>A | NP_004136.2:p.Ser1011Thr | |
| XM_011528029.1:c.3121T>A | XP_011526331.1:p.Ser1041Thr | |
| XM_011528030.1:c.3121T>A | XP_011526332.1:p.Ser1041Thr | |
| XM_011528031.1:c.3121T>A | XP_011526333.1:p.Ser1041Thr | |
| XM_011528032.1:c.3121T>A | XP_011526334.1:p.Ser1041Thr | |
| XM_011528033.1:c.3031T>A | XP_011526335.1:p.Ser1011Thr | |
| XM_011528034.1:c.2917T>A | XP_011526336.1:p.Ser973Thr | |
| XM_011528035.1:c.3121T>A | XP_011526337.1:p.Ser1041Thr | |
| XM_011528036.1:c.3121T>A | XP_011526338.1:p.Ser1041Thr | |
| XM_011528037.1:c.3031T>A | XP_011526339.1:p.Ser1011Thr | |
| XM_011528038.1:c.3031T>A | XP_011526340.1:p.Ser1011Thr | |
| XR_936183.1:n.3275T>A | ||
| XR_936184.1:n.3275T>A | ||
| XR_936185.1:n.3275T>A | ||
| NM_001130065.2:c.3031T>A | NP_001123537.1:p.Ser1011Thr | |
| NM_004145.4:c.3031T>A MANE Select | NP_004136.2:p.Ser1011Thr |