Revel Score:
ENST00000355710 (MANE Select)
0.158
ENST00000340058
0.158
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002546 (AFR)
Genomes Max Group AF
0.00004728 (AFR)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43111238C>T , CM000672.2:g.43111238C>T | GRCh38 |
| NC_000010.10:g.43606686C>T , CM000672.1:g.43606686C>T | GRCh37 |
| NC_000010.9:g.42926692C>T | NCBI36 |
| NG_007489.1:g.39170C>T , LRG_518:g.39170C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.899C>T | ENSP00000480088.2:p.Ala300Val | |
| ENST00000683007.1:n.869C>T | ||
| ENST00000683872.1:n.56C>T | ||
| ENST00000340058.6:c.1295C>T | ENSP00000344798.4:p.Ala432Val | |
| ENST00000355710.8:c.1295C>T MANE Select | ENSP00000347942.3:p.Ala432Val | |
| ENST00000671844.1:c.657C>T | ENSP00000500541.1:p.Gly219= | |
| ENST00000672389.1:c.105C>T | ENSP00000500252.1:p.Gly35= | |
| ENST00000340058.5:c.1295C>T | ENSP00000344798.4:p.Ala432Val | |
| ENST00000355710.7:c.1295C>T | ENSP00000347942.3:p.Ala432Val | |
| ENST00000498820.5:c.74-861C>T | ENSP00000419080.1:n.74-861C>T | |
| ENST00000615310.4:c.1289+6C>T | ENSP00000480088.1:n.1289+6C>T | |
| NM_020630.4:c.1295C>T , LRG_518t2:c.1295C>T | NP_065681.1:p.Ala432Val | |
| NM_020975.4:c.1295C>T , LRG_518t1:c.1295C>T | NP_066124.1:p.Ala432Val | |
| XM_011540027.1:c.1295C>T | XP_011538329.1:p.Ala432Val | |
| NM_001355216.1:c.533C>T | NP_001342145.1:p.Ala178Val | |
| NM_020630.5:c.1295C>T | NP_065681.1:p.Ala432Val | |
| NM_020975.5:c.1295C>T | NP_066124.1:p.Ala432Val | |
| NM_020975.6:c.1295C>T MANE Select | NP_066124.1:p.Ala432Val | |
| NM_020630.6:c.1295C>T | NP_065681.1:p.Ala432Val |