Revel Score:
ENST00000426637
0.139
ENST00000380472
0.139
ENST00000538898
0.139
ENST00000397717
0.139
ENST00000338130
0.139
ENST00000380441
0.139
ENST00000380455 (MANE Select)
0.139
ENST00000380454
0.139
ENST00000380430
0.139
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95438395 (AFR)
Genomes Max Group AF
0.9486294 (AFR)
Exomes Max Group AF
0.95610279 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3010156C>T , CM000668.2:g.3010156C>T | GRCh38 |
| NC_000006.11:g.3010390C>T , CM000668.1:g.3010390C>T | GRCh37 |
| NC_000006.10:g.2955389C>T | NCBI36 |
| NG_034013.1:g.15341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338130.7:c.139C>T | ENSP00000337773.2:p.Leu47Phe | |
| ENST00000380430.6:c.139C>T | ENSP00000369795.1:p.Leu47Phe | |
| ENST00000380455.11:c.139C>T MANE Select | ENSP00000369822.4:p.Leu47Phe | |
| ENST00000397717.7:c.139C>T | ENSP00000380829.2:p.Leu47Phe | |
| ENST00000338130.6:c.139C>T | ENSP00000337773.2:p.Leu47Phe | |
| ENST00000380430.5:c.139C>T | ENSP00000369795.1:p.Leu47Phe | |
| ENST00000380441.5:c.139C>T | ENSP00000369806.1:p.Leu47Phe | |
| ENST00000380454.8:c.139C>T | ENSP00000369821.4:p.Leu47Phe | |
| ENST00000380455.8:c.139C>T | ENSP00000369822.4:p.Leu47Phe | |
| ENST00000380472.7:c.139C>T | ENSP00000369839.3:p.Leu47Phe | |
| ENST00000397717.6:c.139C>T | ENSP00000380829.2:p.Leu47Phe | |
| ENST00000426637.5:c.139C>T | ENSP00000406951.1:p.Leu47Phe | |
| ENST00000606474.1:c.*151C>T | ENSP00000475864.1:n.*151C>T | |
| NM_000904.4:c.139C>T | NP_000895.2:p.Leu47Phe | |
| NM_001290221.1:c.139C>T | NP_001277150.1:p.Leu47Phe | |
| NM_001290222.1:c.139C>T | NP_001277151.1:p.Leu47Phe | |
| XM_005249148.2:c.139C>T | XP_005249205.1:p.Leu47Phe | |
| XM_005249149.2:c.139C>T | XP_005249206.1:p.Leu47Phe | |
| XM_005249150.2:c.139C>T | XP_005249207.1:p.Leu47Phe | |
| XM_005249151.3:c.139C>T | XP_005249208.1:p.Leu47Phe | |
| XM_006715100.1:c.139C>T | XP_006715163.1:p.Leu47Phe | |
| XM_011514642.1:c.139C>T | XP_011512944.1:p.Leu47Phe | |
| XM_011514643.1:c.139C>T | XP_011512945.1:p.Leu47Phe | |
| XM_011514644.1:c.139C>T | XP_011512946.1:p.Leu47Phe | |
| XM_011514645.1:c.139C>T | XP_011512947.1:p.Leu47Phe | |
| XM_011514646.1:c.139C>T | XP_011512948.1:p.Leu47Phe | |
| NM_001318940.1:c.139C>T | NP_001305869.1:p.Leu47Phe | |
| NM_000904.6:c.139C>T MANE Select | NP_000895.2:p.Leu47Phe | |
| NM_001290221.2:c.139C>T | NP_001277150.1:p.Leu47Phe | |
| NM_001290222.2:c.139C>T | NP_001277151.1:p.Leu47Phe | |
| NM_001318940.2:c.139C>T | NP_001305869.1:p.Leu47Phe |