Revel Score:
ENST00000288228 (MANE Select)
0.111
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00044921 (NFE)
Genomes Max Group AF
0.00032953 (NFE)
Exomes Max Group AF
0.00044973 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.59516730T>C , CM000677.2:g.59516730T>C | GRCh38 |
| NC_000015.9:g.59808929T>C , CM000677.1:g.59808929T>C | GRCh37 |
| NC_000015.8:g.57596221T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288228.10:c.872T>C MANE Select | ENSP00000288228.5:p.Phe291Ser | |
| ENST00000288228.9:c.872T>C | ENSP00000288228.5:p.Phe291Ser | |
| NM_152450.2:c.872T>C | NP_689663.2:p.Phe291Ser | |
| XM_005254166.1:c.899T>C | XP_005254223.1:p.Phe300Ser | |
| XM_006720398.2:c.872T>C | XP_006720461.1:p.Phe291Ser | |
| XM_006720399.1:c.872T>C | XP_006720462.1:p.Phe291Ser | |
| XM_011521246.1:c.899T>C | XP_011519548.1:p.Phe300Ser | |
| XM_011521247.1:c.899T>C | XP_011519549.1:p.Phe300Ser | |
| XM_011521248.1:c.899T>C | XP_011519550.1:p.Phe300Ser | |
| XM_011521249.1:c.872T>C | XP_011519551.1:p.Phe291Ser | |
| XM_011521250.1:c.872T>C | XP_011519552.1:p.Phe291Ser | |
| XM_011521251.1:c.872T>C | XP_011519553.1:p.Phe291Ser | |
| XM_011521252.1:c.813+2306T>C | XP_011519554.1:n.813+2306T>C | |
| XM_011521253.1:c.506T>C | XP_011519555.1:p.Phe169Ser | |
| XM_005254166.2:c.899T>C | XP_005254223.1:p.Phe300Ser | |
| XM_006720398.3:c.872T>C | XP_006720461.1:p.Phe291Ser | |
| XM_011521247.2:c.899T>C | XP_011519549.1:p.Phe300Ser | |
| XM_011521248.2:c.899T>C | XP_011519550.1:p.Phe300Ser | |
| XM_011521249.2:c.872T>C | XP_011519551.1:p.Phe291Ser | |
| XM_011521250.2:c.872T>C | XP_011519552.1:p.Phe291Ser | |
| XM_017021931.1:c.899T>C | XP_016877420.1:p.Phe300Ser | |
| XM_017021932.1:c.899T>C | XP_016877421.1:p.Phe300Ser | |
| XM_024449846.1:c.872T>C | XP_024305614.1:p.Phe291Ser | |
| NM_152450.3:c.872T>C MANE Select | NP_689663.2:p.Phe291Ser |