Revel Score:
ENST00000374103 (MANE Select)
0.424
ENST00000419399
0.424
ENST00000432695
0.424
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00327343 (SAS)
Genomes Max Group AF
0.00335742 (NFE)
Exomes Max Group AF
0.00331316 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49750849T>A , CM000672.2:g.49750849T>A | GRCh38 |
| NC_000010.10:g.50958895T>A , CM000672.1:g.50958895T>A | GRCh37 |
| NC_000010.9:g.50628901T>A | NCBI36 |
| NG_052636.1:g.16531A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374103.9:c.886A>T MANE Select | ENSP00000363216.4:p.Met296Leu | |
| ENST00000374103.8:c.886A>T | ENSP00000363216.4:p.Met296Leu | |
| ENST00000419399.4:c.715A>T | ENSP00000401356.1:p.Met239Leu | |
| ENST00000432695.2:c.259A>T | ENSP00000390240.1:p.Met87Leu | |
| NM_001143996.1:c.715A>T | NP_001137468.1:p.Met239Leu | |
| NM_001143997.1:c.259A>T | NP_001137469.1:p.Met87Leu | |
| NM_018245.2:c.886A>T | NP_060715.2:p.Met296Leu | |
| XM_011539946.1:c.886A>T | XP_011538248.1:p.Met296Leu | |
| XM_011539947.1:c.886A>T | XP_011538249.1:p.Met296Leu | |
| XM_011539948.1:c.886A>T | XP_011538250.1:p.Met296Leu | |
| XM_011539949.1:c.886A>T | XP_011538251.1:p.Met296Leu | |
| NM_001347819.1:c.886A>T | NP_001334748.1:p.Met296Leu | |
| NM_001347820.1:c.715A>T | NP_001334749.1:p.Met239Leu | |
| NM_001347821.1:c.259A>T | NP_001334750.1:p.Met87Leu | |
| NM_001347822.1:c.259A>T | NP_001334751.1:p.Met87Leu | |
| NM_001347823.1:c.886A>T | NP_001334752.1:p.Met296Leu | |
| NM_001347824.1:c.886A>T | NP_001334753.1:p.Met296Leu | |
| NM_001347825.1:c.259A>T | NP_001334754.1:p.Met87Leu | |
| NM_001347826.1:c.-41A>T | NP_001334755.1:n.-41A>T | |
| NR_144682.1:n.857A>T | ||
| NR_144683.1:n.1028A>T | ||
| NR_144684.1:n.857A>T | ||
| NR_144685.1:n.652A>T | ||
| NR_144686.1:n.1028A>T | ||
| XM_011539946.2:c.886A>T | XP_011538248.1:p.Met296Leu | |
| XM_017016402.1:c.-159A>T | XP_016871891.1:n.-159A>T | |
| XM_017016403.1:c.-41A>T | XP_016871892.1:n.-41A>T | |
| NM_018245.3:c.886A>T MANE Select | NP_060715.2:p.Met296Leu | |
| NM_001347821.2:c.259A>T | NP_001334750.1:p.Met87Leu | |
| NM_001347824.2:c.886A>T | NP_001334753.1:p.Met296Leu | |
| NM_001347825.2:c.259A>T | NP_001334754.1:p.Met87Leu | |
| NR_144682.2:n.801A>T | ||
| NR_144683.2:n.972A>T | ||
| NR_144684.2:n.801A>T | ||
| NR_144685.2:n.596A>T | ||
| NR_144686.2:n.972A>T | ||
| NM_001143996.2:c.715A>T | NP_001137468.1:p.Met239Leu | |
| NM_001143997.2:c.259A>T | NP_001137469.1:p.Met87Leu |