Revel Score:
ENST00000261304 (MANE Select)
0.982
ENST00000544807
0.982
ENST00000393569
0.982
ENST00000539620
0.982
ENST00000393568
0.982
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000543 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87945682A>G , CM000676.2:g.87945682A>G | GRCh38 |
| NC_000014.8:g.88412026A>G , CM000676.1:g.88412026A>G | GRCh37 |
| NC_000014.7:g.87481779A>G | NCBI36 |
| NG_011853.2:g.52882T>C | |
| NG_011853.3:g.52882T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1541T>C MANE Select | ENSP00000261304.2:p.Phe514Ser | |
| ENST00000261304.6:c.1541T>C | ENSP00000261304.2:p.Phe514Ser | |
| ENST00000393568.8:c.1472T>C | ENSP00000377198.4:p.Phe491Ser | |
| ENST00000393569.6:c.1463T>C | ENSP00000377199.2:p.Phe488Ser | |
| ENST00000544807.6:c.1373T>C | ENSP00000437513.2:p.Phe458Ser | |
| ENST00000555000.5:c.908T>C | ENSP00000450472.1:p.Phe303Ser | |
| ENST00000555179.1:c.206+2046T>C | ||
| ENST00000557316.5:c.*939T>C | ENSP00000452314.1:n.*939T>C | |
| NM_000153.3:c.1541T>C | NP_000144.2:p.Phe514Ser | |
| NM_001201401.1:c.1472T>C | NP_001188330.1:p.Phe491Ser | |
| NM_001201402.1:c.1463T>C | NP_001188331.1:p.Phe488Ser | |
| XM_011536618.1:c.1373T>C | XP_011534920.1:p.Phe458Ser | |
| XM_011536618.2:c.1373T>C | XP_011534920.1:p.Phe458Ser | |
| NM_000153.4:c.1541T>C MANE Select | NP_000144.2:p.Phe514Ser | |
| NM_001201401.2:c.1472T>C | NP_001188330.1:p.Phe491Ser | |
| NM_001201402.2:c.1463T>C | NP_001188331.1:p.Phe488Ser |