Revel Score:
ENST00000176643 (MANE Select)
0.968
ENST00000395575
0.968
ENST00000339618
0.968
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004264 (NFE)
Exomes Max Group AF
0.00004438 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19663335C>T , CM000679.2:g.19663335C>T | GRCh38 |
| NC_000017.10:g.19566648C>T , CM000679.1:g.19566648C>T | GRCh37 |
| NC_000017.9:g.19507240C>T | NCBI36 |
| NG_007095.2:g.19585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.943C>T MANE Select | ENSP00000176643.6:p.Pro315Ser | |
| ENST00000395575.7:c.616C>T | ENSP00000378942.3:p.Pro206Ser | |
| ENST00000472059.6:c.*501C>T | ENSP00000458397.1:n.*501C>T | |
| ENST00000574078.3:n.272C>T | ||
| ENST00000581518.6:c.943C>T | ENSP00000461916.2:p.Pro315Ser | |
| ENST00000582991.6:c.943C>T | ENSP00000464153.1:p.Pro315Ser | |
| ENST00000671878.1:c.943C>T | ENSP00000500516.1:p.Pro315Ser | |
| ENST00000672059.1:n.1394C>T | ||
| ENST00000672357.1:c.943C>T | ENSP00000500092.1:p.Pro315Ser | |
| ENST00000672465.1:c.943C>T | ENSP00000500517.1:p.Pro315Ser | |
| ENST00000672487.1:c.*123C>T | ENSP00000500740.1:n.*123C>T | |
| ENST00000672564.1:n.1164C>T | ||
| ENST00000672567.1:c.834C>T | ||
| ENST00000672591.1:c.3C>T | ||
| ENST00000672608.1:n.1932C>T | ||
| ENST00000672709.1:c.797C>T | ||
| ENST00000673064.1:n.1443C>T | ||
| ENST00000673136.1:c.943C>T | ENSP00000500380.1:p.Pro315Ser | |
| ENST00000673472.1:n.1279C>T | ||
| ENST00000673516.1:n.1403C>T | ||
| ENST00000176643.10:c.943C>T | ENSP00000176643.6:p.Pro315Ser | |
| ENST00000339618.8:c.943C>T | ENSP00000345774.4:p.Pro315Ser | |
| ENST00000395575.6:c.943C>T | ENSP00000378942.2:p.Pro315Ser | |
| ENST00000472059.5:c.*501C>T | ENSP00000458397.1:n.*501C>T | |
| ENST00000476965.5:n.693C>T | ||
| ENST00000574078.2:n.272C>T | ||
| ENST00000578696.1:c.374C>T | ||
| ENST00000579855.5:c.943C>T | ENSP00000463637.1:p.Pro315Ser | |
| ENST00000581518.5:c.943C>T | ENSP00000461916.1:p.Pro315Ser | |
| ENST00000582991.5:c.943C>T | ENSP00000464153.1:p.Pro315Ser | |
| ENST00000630662.2:c.-39C>T | ENSP00000487353.1:n.-39C>T | |
| ENST00000631291.2:c.943C>T | ENSP00000486085.1:p.Pro315Ser | |
| NM_000382.2:c.943C>T | NP_000373.1:p.Pro315Ser | |
| NM_001031806.1:c.943C>T | NP_001026976.1:p.Pro315Ser | |
| XM_011523732.1:c.943C>T | XP_011522034.1:p.Pro315Ser | |
| XM_011523733.1:c.943C>T | XP_011522035.1:p.Pro315Ser | |
| XM_011523733.2:c.943C>T | XP_011522035.1:p.Pro315Ser | |
| XM_017024355.1:c.943C>T | XP_016879844.1:p.Pro315Ser | |
| XM_017024356.2:c.943C>T | XP_016879845.1:p.Pro315Ser | |
| XM_017024357.1:c.943C>T | XP_016879846.1:p.Pro315Ser | |
| XM_017024358.2:c.943C>T | XP_016879847.1:p.Pro315Ser | |
| XM_024450651.1:c.364C>T | XP_024306419.1:p.Pro122Ser | |
| XM_024450652.1:c.364C>T | XP_024306420.1:p.Pro122Ser | |
| NM_000382.3:c.943C>T MANE Select | NP_000373.1:p.Pro315Ser | |
| NM_001031806.2:c.943C>T | NP_001026976.1:p.Pro315Ser | |
| NM_001369136.1:c.943C>T | NP_001356065.1:p.Pro315Ser | |
| NM_001369137.1:c.943C>T | NP_001356066.1:p.Pro315Ser | |
| NM_001369138.1:c.943C>T | NP_001356067.1:p.Pro315Ser | |
| NM_001369139.1:c.943C>T | NP_001356068.1:p.Pro315Ser | |
| NM_001369146.1:c.943C>T | NP_001356075.1:p.Pro315Ser | |
| NM_001369148.1:c.364C>T | NP_001356077.1:p.Pro122Ser | |
| NM_001369137.2:c.943C>T | NP_001356066.1:p.Pro315Ser | |
| NM_001369138.2:c.943C>T | NP_001356067.1:p.Pro315Ser | |
| NM_001369146.2:c.943C>T | NP_001356075.1:p.Pro315Ser | |
| NM_001369148.2:c.364C>T | NP_001356077.1:p.Pro122Ser |