Revel Score:
ENST00000455537 (MANE Select)
0.506
ENST00000286452
0.506
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005435 (AMR)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00004359 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57576326C>T , CM000674.2:g.57576326C>T | GRCh38 |
| NC_000012.11:g.57970109C>T , CM000674.1:g.57970109C>T | GRCh37 |
| NC_000012.10:g.56256376C>T | NCBI36 |
| NG_008155.1:g.31263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2146C>T MANE Select | ENSP00000408979.2:p.Arg716Trp | |
| ENST00000674619.1:c.2146C>T | ENSP00000502270.1:p.Arg716Trp | |
| ENST00000675299.1:c.294C>T | ENSP00000501888.1:n.294C>T | |
| ENST00000675882.1:n.1133C>T | ||
| ENST00000675929.1:n.704C>T | ||
| ENST00000675984.1:n.1834C>T | ||
| ENST00000676081.1:n.1409C>T | ||
| ENST00000676457.1:c.2041C>T | ENSP00000501588.1:p.Arg681Trp | |
| ENST00000286452.5:c.1879C>T | ENSP00000286452.5:p.Arg627Trp | |
| ENST00000455537.6:c.2146C>T | ENSP00000408979.2:p.Arg716Trp | |
| NM_004984.2:c.2146C>T | NP_004975.2:p.Arg716Trp | |
| NM_001354705.1:c.1879C>T | NP_001341634.1:p.Arg627Trp | |
| NM_004984.3:c.2146C>T | NP_004975.2:p.Arg716Trp | |
| XR_002957324.1:n.2379C>T | ||
| NM_004984.4:c.2146C>T MANE Select | NP_004975.2:p.Arg716Trp | |
| NM_001354705.2:c.1879C>T | NP_001341634.1:p.Arg627Trp |