Revel Score:
ENST00000359271 (MANE Select)
0.141
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005298 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.0000551 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46726093C>G , CM000682.2:g.46726093C>G | GRCh38 |
| NC_000020.10:g.45354732C>G , CM000682.1:g.45354732C>G | GRCh37 |
| NC_000020.9:g.44788139C>G | NCBI36 |
| NG_016284.1:g.21454C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.1057C>G MANE Select | ENSP00000352216.2:p.Leu353Val | |
| ENST00000359271.3:c.1057C>G | ENSP00000352216.2:p.Leu353Val | |
| NM_030777.3:c.1057C>G | NP_110404.1:p.Leu353Val | |
| XM_011529060.1:c.1120C>G | XP_011527362.1:p.Leu374Val | |
| XM_011529061.1:c.1066C>G | XP_011527363.1:p.Leu356Val | |
| XM_011529062.1:c.1120C>G | XP_011527364.1:p.Leu374Val | |
| XM_011529063.1:c.1120C>G | XP_011527365.1:p.Leu374Val | |
| XM_011529064.1:c.1120C>G | XP_011527366.1:p.Leu374Val | |
| XM_011529065.1:c.1120C>G | XP_011527367.1:p.Leu374Val | |
| XR_936641.1:n.1256C>G | ||
| XM_011529060.2:c.1120C>G | XP_011527362.1:p.Leu374Val | |
| XM_011529061.2:c.1066C>G | XP_011527363.1:p.Leu356Val | |
| XM_011529062.2:c.1120C>G | XP_011527364.1:p.Leu374Val | |
| XM_011529063.2:c.1120C>G | XP_011527365.1:p.Leu374Val | |
| XM_011529064.2:c.1120C>G | XP_011527366.1:p.Leu374Val | |
| XM_011529065.2:c.1120C>G | XP_011527367.1:p.Leu374Val | |
| XM_017028087.2:c.1057C>G | XP_016883576.1:p.Leu353Val | |
| XR_936641.2:n.1243C>G | ||
| NM_030777.4:c.1057C>G MANE Select | NP_110404.1:p.Leu353Val |