Revel Score:
ENST00000538177
0.293
ENST00000537624
0.293
ENST00000286749
0.293
ENST00000394573 (MANE Select)
0.293
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01130456 (AFR)
Genomes Max Group AF
0.01127343 (AFR)
Exomes Max Group AF
0.01075495 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84943499T>C , CM000677.2:g.84943499T>C | GRCh38 |
| NC_000015.9:g.85486730T>C , CM000677.1:g.85486730T>C | GRCh37 |
| NC_000015.8:g.83287734T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394573.6:c.1636T>C MANE Select | ENSP00000378074.1:p.Ser546Pro | |
| ENST00000286749.3:c.1636T>C | ENSP00000286749.3:p.Ser546Pro | |
| ENST00000394573.5:c.1636T>C | ENSP00000378074.1:p.Ser546Pro | |
| ENST00000538177.5:c.1138T>C | ENSP00000443752.1:p.Ser380Pro | |
| NM_001287761.1:c.1138T>C | NP_001274690.1:p.Ser380Pro | |
| NM_001287762.1:c.1636T>C | NP_001274691.1:p.Ser546Pro | |
| NM_004213.4:c.1636T>C | NP_004204.3:p.Ser546Pro | |
| XM_011522203.1:c.1636T>C | XP_011520505.1:p.Ser546Pro | |
| XM_011522204.1:c.1636T>C | XP_011520506.1:p.Ser546Pro | |
| XM_011522205.1:c.1636T>C | XP_011520507.1:p.Ser546Pro | |
| XM_011522206.1:c.1636T>C | XP_011520508.1:p.Ser546Pro | |
| XM_011522207.1:c.1636T>C | XP_011520509.1:p.Ser546Pro | |
| XM_011522208.1:c.1609T>C | XP_011520510.1:p.Ser537Pro | |
| XM_011522209.1:c.1558T>C | XP_011520511.1:p.Ser520Pro | |
| XM_011522210.1:c.1636T>C | XP_011520512.1:p.Ser546Pro | |
| XM_011522211.1:c.1402T>C | XP_011520513.1:p.Ser468Pro | |
| XM_011522212.1:c.1582-7581T>C | XP_011520514.1:n.1582-7581T>C | |
| XM_011522213.1:c.1581+7981T>C | XP_011520515.1:n.1581+7981T>C | |
| XM_011522215.1:c.1138T>C | XP_011520517.1:p.Ser380Pro | |
| XM_011522216.1:c.1402T>C | XP_011520518.1:p.Ser468Pro | |
| XM_011522217.1:c.1138T>C | XP_011520519.1:p.Ser380Pro | |
| XR_931944.1:n.1656+7981T>C | ||
| NM_001321721.1:c.1581+7981T>C | NP_001308650.1:n.1581+7981T>C | |
| NM_001321722.1:c.1636T>C | NP_001308651.1:p.Ser546Pro | |
| XM_011522203.2:c.1636T>C | XP_011520505.1:p.Ser546Pro | |
| XM_011522204.3:c.1636T>C | XP_011520506.1:p.Ser546Pro | |
| XM_011522205.3:c.1636T>C | XP_011520507.1:p.Ser546Pro | |
| XM_011522206.3:c.1636T>C | XP_011520508.1:p.Ser546Pro | |
| XM_011522208.3:c.1609T>C | XP_011520510.1:p.Ser537Pro | |
| XM_011522209.2:c.1558T>C | XP_011520511.1:p.Ser520Pro | |
| XM_011522210.2:c.1636T>C | XP_011520512.1:p.Ser546Pro | |
| XM_011522211.3:c.1402T>C | XP_011520513.1:p.Ser468Pro | |
| XM_011522215.2:c.1138T>C | XP_011520517.1:p.Ser380Pro | |
| XM_011522216.2:c.1402T>C | XP_011520518.1:p.Ser468Pro | |
| XM_017022723.1:c.1636T>C | XP_016878212.1:p.Ser546Pro | |
| XM_024450099.1:c.1636T>C | XP_024305867.1:p.Ser546Pro | |
| XM_024450100.1:c.1558T>C | XP_024305868.1:p.Ser520Pro | |
| XM_024450101.1:c.1558T>C | XP_024305869.1:p.Ser520Pro | |
| XM_024450102.1:c.595T>C | XP_024305870.1:p.Ser199Pro | |
| XR_931944.2:n.1656+7981T>C | ||
| NM_004213.5:c.1636T>C MANE Select | NP_004204.3:p.Ser546Pro | |
| NM_001287762.2:c.1636T>C | NP_001274691.1:p.Ser546Pro | |
| NM_001321721.2:c.1581+7981T>C | NP_001308650.1:n.1581+7981T>C | |
| NM_001321722.2:c.1636T>C | NP_001308651.1:p.Ser546Pro | |
| NM_001287761.2:c.1138T>C | NP_001274690.1:p.Ser380Pro |