Revel Score:
ENST00000242576 (MANE Select)
0.740
ENST00000336865
0.740
ENST00000537518
0.740
ENST00000542183
0.635
gnomAD v4:
Joint Max Group AF
0.00001772 (EAS)
Exomes Max Group AF
0.00002003 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109103562T>C , CM000674.2:g.109103562T>C | GRCh38 |
| NC_000012.11:g.109541367T>C , CM000674.1:g.109541367T>C | GRCh37 |
| NC_000012.10:g.108025750T>C | NCBI36 |
| NG_007284.1:g.10953T>C , LRG_124:g.10953T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539287.6:c.725T>C | ENSP00000440784.1:p.Phe242Ser | |
| ENST00000699559.1:c.725T>C | ENSP00000514433.1:p.Phe242Ser | |
| ENST00000699560.1:c.629T>C | ENSP00000514434.1:p.Phe210Ser | |
| ENST00000699561.1:c.725T>C | ENSP00000514435.1:p.Phe242Ser | |
| ENST00000699562.1:c.725T>C | ENSP00000514436.1:p.Phe242Ser | |
| ENST00000699563.1:c.725T>C | ENSP00000514437.1:p.Phe242Ser | |
| ENST00000699564.1:c.*181T>C | ENSP00000514438.1:n.*181T>C | |
| ENST00000699565.1:c.742T>C | ENSP00000514439.1:n.742T>C | |
| ENST00000699566.1:c.830T>C | ENSP00000514440.1:n.830T>C | |
| ENST00000699567.1:c.636T>C | ENSP00000514441.1:n.636T>C | |
| ENST00000242576.7:c.752T>C MANE Select | ENSP00000242576.3:p.Phe251Ser | |
| ENST00000242576.6:c.752T>C | ENSP00000242576.2:p.Phe251Ser | |
| ENST00000336865.6:c.725T>C | ENSP00000337398.2:p.Phe242Ser | |
| ENST00000446767.2:c.*201T>C | ENSP00000400287.2:n.*201T>C | |
| ENST00000539287.5:c.725T>C | ENSP00000440784.1:p.Phe242Ser | |
| NM_003362.3:c.725T>C | NP_003353.1:p.Phe242Ser | |
| NM_080911.2:c.752T>C | NP_550433.1:p.Phe251Ser | |
| NM_003362.4:c.725T>C | NP_003353.1:p.Phe242Ser | |
| NM_080911.3:c.752T>C MANE Select | NP_550433.1:p.Phe251Ser |