Revel Score:
ENST00000359376
0.113
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81908423C>T , CM000678.2:g.81908423C>T | GRCh38 |
| NC_000016.9:g.81942028C>T , CM000678.1:g.81942028C>T | GRCh37 |
| NC_000016.8:g.80499529C>T | NCBI36 |
| NG_032019.2:g.174327C>T , LRG_376:g.174327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570198.2:n.683C>T | ||
| ENST00000697562.1:c.*425C>T | ENSP00000513338.1:n.*425C>T | |
| ENST00000697563.1:c.*1411C>T | ENSP00000513339.1:n.*1411C>T | |
| ENST00000697564.1:c.1448C>T | ENSP00000513340.1:p.Pro483Leu | |
| ENST00000697581.1:c.*1559C>T | ENSP00000513346.1:n.*1559C>T | |
| ENST00000697582.1:c.1565C>T | ENSP00000513347.1:p.Pro522Leu | |
| ENST00000697583.1:c.1364C>T | ENSP00000513349.1:p.Pro455Leu | |
| ENST00000697584.1:c.1364C>T | ENSP00000513350.1:p.Pro455Leu | |
| ENST00000697585.1:c.1364C>T | ENSP00000513351.1:p.Pro455Leu | |
| ENST00000697586.1:c.1364C>T | ENSP00000513352.1:p.Pro455Leu | |
| ENST00000697587.1:c.1364C>T | ENSP00000513353.1:p.Pro455Leu | |
| ENST00000564138.6:c.1565C>T MANE Select | ENSP00000482457.1:p.Pro522Leu | |
| ENST00000359376.7:c.1565C>T | ENSP00000352336.4:p.Pro522Leu | |
| ENST00000564138.5:c.1565C>T | ENSP00000482457.1:p.Pro522Leu | |
| ENST00000567980.5:n.1809C>T | ||
| NM_002661.4:c.1565C>T | NP_002652.2:p.Pro522Leu | |
| XM_011523108.1:c.1679C>T | XP_011521410.1:p.Pro560Leu | |
| NM_002661.5:c.1565C>T MANE Select | NP_002652.2:p.Pro522Leu |