COSMIC:
COSM5514686 (not active)
COSM5514687 (not active)
Revel Score:
ENST00000340482
0.208
ENST00000225275 (MANE Select)
0.208
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01623921 (NFE)
Genomes Max Group AF
0.01445919 (NFE)
Exomes Max Group AF
0.01630689 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58278036G>A , CM000679.2:g.58278036G>A | GRCh38 |
| NC_000017.10:g.56355397G>A , CM000679.1:g.56355397G>A | GRCh37 |
| NC_000017.9:g.53710396G>A | NCBI36 |
| NG_009629.1:g.7900C>T , LRG_84:g.7900C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.270C>T | ||
| ENST00000699291.1:c.281C>T | ENSP00000514272.1:p.Ala94Val | |
| ENST00000225275.4:c.995C>T MANE Select | ENSP00000225275.3:p.Ala332Val | |
| ENST00000225275.3:c.995C>T | ENSP00000225275.3:p.Ala332Val | |
| ENST00000578493.1:n.84C>T | ||
| NM_000250.1:c.995C>T , LRG_84t1:c.995C>T | NP_000241.1:p.Ala332Val | |
| XM_011524821.1:c.1181C>T | XP_011523123.1:p.Ala394Val | |
| XM_011524822.1:c.710C>T | XP_011523124.1:p.Ala237Val | |
| XM_011524823.1:c.1181C>T | XP_011523125.1:p.Ala394Val | |
| NM_000250.2:c.995C>T MANE Select | NP_000241.1:p.Ala332Val |