COSMIC:
COSM4415236 (not active)
COSM5438323 (not active)
Revel Score:
ENST00000359526 (MANE Select)
0.180
ENST00000540357
0.180
ENST00000340748
0.180
ENST00000541266
0.180
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36607902 (EAS)
Genomes Max Group AF
0.38371424 (EAS)
Exomes Max Group AF
0.36227747 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10162696T>C , CM000681.2:g.10162696T>C | GRCh38 |
| NC_000019.9:g.10273372T>C , CM000681.1:g.10273372T>C | GRCh37 |
| NC_000019.8:g.10134372T>C | NCBI36 |
| NG_028016.3:g.73591A>G , LRG_362:g.73591A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.979A>G MANE Select | ENSP00000352516.3:p.Ile327Val | |
| ENST00000676604.1:n.591A>G | ||
| ENST00000676610.1:c.931A>G | ENSP00000504236.1:p.Ile311Val | |
| ENST00000676820.1:n.987A>G | ||
| ENST00000676868.1:n.1615A>G | ||
| ENST00000677013.1:c.*621A>G | ENSP00000503135.1:n.*621A>G | |
| ENST00000677250.1:c.*51A>G | ENSP00000502894.1:n.*51A>G | |
| ENST00000677616.1:c.622A>G | ENSP00000503055.1:p.Ile208Val | |
| ENST00000677634.1:c.931A>G | ENSP00000504246.1:p.Ile311Val | |
| ENST00000677685.1:c.*156A>G | ENSP00000503407.1:n.*156A>G | |
| ENST00000677783.1:n.1401A>G | ||
| ENST00000677946.1:c.931A>G | ENSP00000504202.1:p.Ile311Val | |
| ENST00000678024.1:n.1074A>G | ||
| ENST00000678694.1:n.252A>G | ||
| ENST00000678804.1:c.931A>G | ENSP00000503853.1:p.Ile311Val | |
| ENST00000679103.1:c.931A>G | ENSP00000503151.1:p.Ile311Val | |
| ENST00000679313.1:c.931A>G | ENSP00000504512.1:p.Ile311Val | |
| ENST00000340748.8:c.931A>G | ENSP00000345739.3:p.Ile311Val | |
| ENST00000359526.8:c.979A>G | ENSP00000352516.3:p.Ile327Val | |
| ENST00000540357.5:c.-78A>G | ENSP00000440457.2:n.-78A>G | |
| ENST00000585920.1:n.288A>G | ||
| ENST00000589349.5:n.162A>G | ||
| ENST00000591764.1:n.157A>G | ||
| ENST00000592705.5:c.*669A>G | ENSP00000466657.1:n.*669A>G | |
| NM_001130823.1:c.979A>G , LRG_362t1:c.979A>G | NP_001124295.1:p.Ile327Val | |
| NM_001379.2:c.931A>G | NP_001370.1:p.Ile311Val | |
| XM_011527772.1:c.979A>G | XP_011526074.1:p.Ile327Val | |
| XM_011527773.1:c.931A>G | XP_011526075.1:p.Ile311Val | |
| XM_011527774.1:c.568A>G | XP_011526076.1:p.Ile190Val | |
| NM_001130823.2:c.979A>G | NP_001124295.1:p.Ile327Val | |
| NM_001318730.1:c.931A>G | NP_001305659.1:p.Ile311Val | |
| NM_001318731.1:c.616A>G | NP_001305660.1:p.Ile206Val | |
| NM_001379.3:c.931A>G | NP_001370.1:p.Ile311Val | |
| NM_001130823.3:c.979A>G MANE Select | NP_001124295.1:p.Ile327Val | |
| NM_001318730.2:c.931A>G | NP_001305659.1:p.Ile311Val | |
| NM_001318731.2:c.616A>G | NP_001305660.1:p.Ile206Val | |
| NM_001379.4:c.931A>G | NP_001370.1:p.Ile311Val |