Revel Score:
ENST00000355710 (MANE Select)
0.897
ENST00000340058
0.897
gnomAD v2:
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_000010.11:g.43121950G>T , CM000672.2:g.43121950G>T | GRCh38 |
| NC_000010.10:g.43617398G>T , CM000672.1:g.43617398G>T | GRCh37 |
| NC_000010.9:g.42937404G>T | NCBI36 |
| NG_007489.1:g.49882G>T , LRG_518:g.49882G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2339G>T | ENSP00000480088.2:p.Arg780Leu | |
| ENST00000683007.1:n.2309G>T | ||
| ENST00000340058.6:c.2735G>T | ENSP00000344798.4:p.Arg912Leu | |
| ENST00000355710.8:c.2735G>T MANE Select | ENSP00000347942.3:p.Arg912Leu | |
| ENST00000671844.1:c.*1329G>T | ENSP00000500541.1:n.*1329G>T | |
| ENST00000672389.1:c.*1329G>T | ENSP00000500252.1:n.*1329G>T | |
| ENST00000340058.5:c.2735G>T | ENSP00000344798.4:p.Arg912Leu | |
| ENST00000355710.7:c.2735G>T | ENSP00000347942.3:p.Arg912Leu | |
| ENST00000615310.4:c.*84G>T | ENSP00000480088.1:n.*84G>T | |
| NM_020630.4:c.2735G>T , LRG_518t2:c.2735G>T | NP_065681.1:p.Arg912Leu | |
| NM_020975.4:c.2735G>T , LRG_518t1:c.2735G>T | NP_066124.1:p.Arg912Leu | |
| XM_011540027.1:c.2735G>T | XP_011538329.1:p.Arg912Leu | |
| NM_001355216.1:c.1973G>T | NP_001342145.1:p.Arg658Leu | |
| NM_020630.5:c.2735G>T | NP_065681.1:p.Arg912Leu | |
| NM_020975.5:c.2735G>T | NP_066124.1:p.Arg912Leu | |
| NM_020975.6:c.2735G>T MANE Select | NP_066124.1:p.Arg912Leu | |
| NM_020630.6:c.2735G>T | NP_065681.1:p.Arg912Leu |