Revel Score:
ENST00000525445 (MANE Select)
0.972
ENST00000348655
0.972
ENST00000397570
0.972
ENST00000397566
0.972
ENST00000397574
0.972
ENST00000397562
0.972
ENST00000330243
0.972
gnomAD v4:
Joint Max Group AF
0.00000126 (NFE)
Exomes Max Group AF
0.00000133 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.613215A>C , CM000673.2:g.613215A>C | GRCh38 |
| NC_000011.9:g.613215A>C , CM000673.1:g.613215A>C | GRCh37 |
| NC_000011.8:g.603215A>C | NCBI36 |
| NG_029106.1:g.7785T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348655.11:c.1141T>G | ENSP00000331803.9:p.Phe381Val | |
| ENST00000469048.6:c.*507T>G | ENSP00000434607.1:n.*507T>G | |
| ENST00000525445.6:c.1228T>G MANE Select | ENSP00000434009.2:p.Phe410Val | |
| ENST00000528413.6:c.1178T>G | ENSP00000497888.1:n.1178T>G | |
| ENST00000330243.9:c.1267T>G | ENSP00000329411.5:p.Phe423Val | |
| ENST00000348655.10:c.1141T>G | ENSP00000331803.9:p.Phe381Val | |
| ENST00000397566.5:c.1267T>G | ENSP00000380697.1:p.Phe423Val | |
| ENST00000397570.5:c.1180T>G | ENSP00000380700.2:p.Phe394Val | |
| ENST00000397574.6:c.1228T>G | ENSP00000380704.2:p.Phe410Val | |
| ENST00000469048.5:c.*507T>G | ENSP00000434607.1:n.*507T>G | |
| ENST00000525445.5:c.910T>G | ENSP00000434009.1:p.Phe304Val | |
| ENST00000528413.5:n.338-83T>G | ||
| ENST00000531912.1:n.377T>G | ||
| ENST00000532326.5:c.*354T>G | ENSP00000436696.1:n.*354T>G | |
| ENST00000533182.5:c.*592T>G | ENSP00000433903.1:n.*592T>G | |
| NM_001572.3:c.1228T>G | NP_001563.2:p.Phe410Val | |
| NM_004029.2:c.1141T>G | NP_004020.1:p.Phe381Val | |
| NM_004031.2:c.1267T>G | NP_004022.2:p.Phe423Val | |
| XM_005252906.2:c.1267T>G | XP_005252963.1:p.Phe423Val | |
| XM_005252907.2:c.1264T>G | XP_005252964.1:p.Phe422Val | |
| XM_005252909.2:c.1180T>G | XP_005252966.1:p.Phe394Val | |
| XM_011520066.1:c.1225T>G | XP_011518368.1:p.Phe409Val | |
| NM_001572.4:c.1228T>G | NP_001563.2:p.Phe410Val | |
| NM_004029.3:c.1141T>G | NP_004020.1:p.Phe381Val | |
| NM_004031.3:c.1267T>G | NP_004022.2:p.Phe423Val | |
| XM_005252907.3:c.1264T>G | XP_005252964.1:p.Phe422Val | |
| XM_005252909.3:c.1180T>G | XP_005252966.1:p.Phe394Val | |
| XM_011520066.3:c.1225T>G | XP_011518368.1:p.Phe409Val | |
| XM_017017674.1:c.349T>G | XP_016873163.1:p.Phe117Val | |
| NM_001572.5:c.1228T>G MANE Select | NP_001563.2:p.Phe410Val | |
| NM_004029.4:c.1141T>G | NP_004020.1:p.Phe381Val | |
| NM_004031.4:c.1267T>G | NP_004022.2:p.Phe423Val |