COSMIC:
COSM3758979 (not active)
COSM3758980 (not active)
Revel Score:
ENST00000330205
0.023
ENST00000291672 (MANE Select)
0.023
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0840475 (NFE)
Genomes Max Group AF
0.0827958 (NFE)
Exomes Max Group AF
0.08402588 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46161921C>T , CM000683.2:g.46161921C>T | GRCh38 |
| NC_000021.8:g.47581835C>T , CM000683.1:g.47581835C>T | GRCh37 |
| NC_000021.7:g.46406263C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291672.6:c.691G>A MANE Select | ENSP00000291672.5:p.Glu231Lys | |
| ENST00000291672.5:c.691G>A | ENSP00000291672.5:p.Glu231Lys | |
| ENST00000330205.10:c.229G>A | ENSP00000333869.6:p.Glu77Lys | |
| NM_001142854.1:c.691G>A | NP_001136326.1:p.Glu231Lys | |
| NM_032261.4:c.229G>A | NP_115637.3:p.Glu77Lys | |
| XM_005261188.3:c.691G>A | XP_005261245.1:p.Glu231Lys | |
| XM_011529756.1:c.349G>A | XP_011528058.1:p.Glu117Lys | |
| XM_005261188.5:c.691G>A | XP_005261245.1:p.Glu231Lys | |
| XM_011529756.2:c.349G>A | XP_011528058.1:p.Glu117Lys | |
| XM_017028480.2:c.691G>A | XP_016883969.1:p.Glu231Lys | |
| NM_001142854.2:c.691G>A MANE Select | NP_001136326.1:p.Glu231Lys | |
| NM_032261.5:c.229G>A | NP_115637.3:p.Glu77Lys |