COSMIC:
COSM4697776 (not active)
COSM4697777 (not active)
Revel Score:
ENST00000447502
0.194
ENST00000397054
0.386
ENST00000236040
0.386
ENST00000296388 (MANE Select)
0.386
ENST00000540027
0.386
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00616948 (AFR)
Genomes Max Group AF
0.00579389 (AFR)
Exomes Max Group AF
0.00619782 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42752342G>A , CM000663.2:g.42752342G>A | GRCh38 |
| NC_000001.10:g.43218013G>A , CM000663.1:g.43218013G>A | GRCh37 |
| NC_000001.9:g.42990600G>A | NCBI36 |
| NG_008123.1:g.19743C>T , LRG_5:g.19743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.1501C>T MANE Select | ENSP00000296388.5:p.Arg501Trp | |
| ENST00000236040.8:c.1501C>T | ENSP00000236040.4:p.Arg501Trp | |
| ENST00000296388.9:c.1501C>T | ENSP00000296388.5:p.Arg501Trp | |
| ENST00000397054.7:c.1501C>T | ENSP00000380245.3:p.Arg501Trp | |
| ENST00000431412.3:c.323C>T | ||
| ENST00000447502.2:n.275C>T | ||
| ENST00000460031.5:n.1693C>T | ||
| ENST00000481465.3:n.224C>T | ||
| ENST00000495874.5:n.1781C>T | ||
| NM_001146289.1:c.1501C>T , LRG_5t2:c.1501C>T | NP_001139761.1:p.Arg501Trp | |
| NM_001243246.1:c.1501C>T , LRG_5t3:c.1501C>T | NP_001230175.1:p.Arg501Trp | |
| NM_022356.3:c.1501C>T , LRG_5t1:c.1501C>T | NP_071751.3:p.Arg501Trp | |
| XM_005271110.2:c.493C>T | XP_005271167.1:p.Arg165Trp | |
| XM_011541947.1:c.526C>T | XP_011540249.1:p.Arg176Trp | |
| XM_011541948.1:c.526C>T | XP_011540250.1:p.Arg176Trp | |
| XM_011541949.1:c.523C>T | XP_011540251.1:p.Arg175Trp | |
| XM_017002051.2:c.526C>T | XP_016857540.1:p.Arg176Trp | |
| XM_017002052.2:c.523C>T | XP_016857541.1:p.Arg175Trp | |
| XR_946739.2:n.1626C>T | ||
| NM_022356.4:c.1501C>T MANE Select | NP_071751.3:p.Arg501Trp | |
| NM_001146289.2:c.1501C>T | NP_001139761.1:p.Arg501Trp | |
| NM_001243246.2:c.1501C>T | NP_001230175.1:p.Arg501Trp |