Revel Score:
ENST00000392968
0.822
ENST00000262186 (MANE Select)
0.822
ENST00000430723
0.822
gnomAD v4:
Joint Max Group AF
0.00000289 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958059C>A , CM000669.2:g.150958059C>A | GRCh38 |
| NC_000007.13:g.150655147C>A , CM000669.1:g.150655147C>A | GRCh37 |
| NC_000007.12:g.150286080C>A | NCBI36 |
| NG_008916.1:g.24868G>T , LRG_288:g.24868G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1749G>T | ||
| ENST00000262186.10:c.916G>T MANE Select | ENSP00000262186.5:p.Gly306Trp | |
| ENST00000262186.9:c.916G>T | ENSP00000262186.5:p.Gly306Trp | |
| ENST00000430723.4:c.568G>T | ENSP00000387657.4:p.Gly190Trp | |
| ENST00000532957.5:n.1139G>T | ||
| NM_000238.3:c.916G>T , LRG_288t1:c.916G>T | NP_000229.1:p.Gly306Trp | |
| NM_172056.2:c.916G>T , LRG_288t2:c.916G>T | NP_742053.1:p.Gly306Trp | |
| XM_011516185.1:c.616G>T | XP_011514487.1:p.Gly206Trp | |
| XM_011516186.1:c.916G>T | XP_011514488.1:p.Gly306Trp | |
| XM_011516185.2:c.616G>T | XP_011514487.1:p.Gly206Trp | |
| XM_011516186.3:c.916G>T | XP_011514488.1:p.Gly306Trp | |
| XM_017012195.1:c.766G>T | XP_016867684.1:p.Gly256Trp | |
| XM_017012196.1:c.739G>T | XP_016867685.1:p.Gly247Trp | |
| NM_000238.4:c.916G>T MANE Select | NP_000229.1:p.Gly306Trp |