Revel Score:
ENST00000535808
0.647
ENST00000326317 (MANE Select)
0.920
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000043 (NFE)
Exomes Max Group AF
0.00000457 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80217084G>A , CM000679.2:g.80217084G>A | GRCh38 |
| NC_000017.10:g.78190883G>A , CM000679.1:g.78190883G>A | GRCh37 |
| NC_000017.9:g.75805478G>A | NCBI36 |
| NG_008229.1:g.8317C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326317.11:c.197C>T MANE Select | ENSP00000314606.6:p.Ser66Leu | |
| ENST00000326317.10:c.197C>T | ENSP00000314606.6:p.Ser66Leu | |
| ENST00000570427.1:c.197C>T | ENSP00000459765.1:p.Ser66Leu | |
| ENST00000570923.1:c.232C>T | ENSP00000458200.1:p.Arg78Trp | |
| ENST00000571051.5:n.217C>T | ||
| ENST00000571075.1:n.217C>T | ||
| ENST00000571675.5:n.217C>T | ||
| ENST00000572208.5:n.215C>T | ||
| ENST00000573150.5:c.197C>T | ENSP00000459280.1:p.Ser66Leu | |
| ENST00000574505.5:c.142C>T | ||
| ENST00000575188.5:n.217C>T | ||
| ENST00000575282.5:n.206C>T | ||
| ENST00000576707.5:c.-65C>T | ENSP00000461128.1:n.-65C>T | |
| ENST00000576941.5:c.197C>T | ENSP00000461160.1:p.Ser66Leu | |
| NM_000199.3:c.197C>T | NP_000190.1:p.Ser66Leu | |
| XM_005257582.2:c.197C>T | XP_005257639.1:p.Ser66Leu | |
| XM_005257583.3:c.197C>T | XP_005257640.1:p.Ser66Leu | |
| XM_011525126.1:c.197C>T | XP_011523428.1:p.Ser66Leu | |
| XM_011525127.1:c.197C>T | XP_011523429.1:p.Ser66Leu | |
| XR_934532.1:n.217C>T | ||
| NM_000199.4:c.197C>T | NP_000190.1:p.Ser66Leu | |
| NM_001352921.1:c.197C>T | NP_001339850.1:p.Ser66Leu | |
| NM_001352922.1:c.197C>T | NP_001339851.1:p.Ser66Leu | |
| NR_148201.1:n.284C>T | ||
| XM_005257583.4:c.197C>T | XP_005257640.1:p.Ser66Leu | |
| XM_017024952.1:c.197C>T | XP_016880441.1:p.Ser66Leu | |
| XR_001752585.1:n.217C>T | ||
| XR_001752586.1:n.217C>T | ||
| XR_001752587.1:n.217C>T | ||
| XR_001752588.1:n.217C>T | ||
| XR_001752589.1:n.217C>T | ||
| XR_001752590.1:n.217C>T | ||
| XR_001752591.1:n.217C>T | ||
| XR_001752592.1:n.217C>T | ||
| XR_002958057.1:n.217C>T | ||
| XR_934532.2:n.217C>T | ||
| NM_000199.5:c.197C>T MANE Select | NP_000190.1:p.Ser66Leu | |
| NM_001352921.2:c.197C>T | NP_001339850.1:p.Ser66Leu | |
| NM_001352922.2:c.197C>T | NP_001339851.1:p.Ser66Leu | |
| NR_148201.2:n.217C>T | ||
| NM_001352921.3:c.197C>T | NP_001339850.1:p.Ser66Leu |