Revel Score:
ENST00000392968
0.383
ENST00000262186 (MANE Select)
0.383
ENST00000430723
0.383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958430G>C , CM000669.2:g.150958430G>C | GRCh38 |
| NC_000007.13:g.150655518G>C , CM000669.1:g.150655518G>C | GRCh37 |
| NC_000007.12:g.150286451G>C | NCBI36 |
| NG_008916.1:g.24497C>G , LRG_288:g.24497C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1378C>G | ||
| ENST00000262186.10:c.545C>G MANE Select | ENSP00000262186.5:p.Ser182Trp | |
| ENST00000262186.9:c.545C>G | ENSP00000262186.5:p.Ser182Trp | |
| ENST00000430723.4:c.235-38C>G | ENSP00000387657.4:n.235-38C>G | |
| ENST00000532957.5:n.768C>G | ||
| NM_000238.3:c.545C>G , LRG_288t1:c.545C>G | NP_000229.1:p.Ser182Trp | |
| NM_172056.2:c.545C>G , LRG_288t2:c.545C>G | NP_742053.1:p.Ser182Trp | |
| XM_011516185.1:c.245C>G | XP_011514487.1:p.Ser82Trp | |
| XM_011516186.1:c.545C>G | XP_011514488.1:p.Ser182Trp | |
| XM_011516185.2:c.245C>G | XP_011514487.1:p.Ser82Trp | |
| XM_011516186.3:c.545C>G | XP_011514488.1:p.Ser182Trp | |
| XM_017012195.1:c.395C>G | XP_016867684.1:p.Ser132Trp | |
| XM_017012196.1:c.368C>G | XP_016867685.1:p.Ser123Trp | |
| NM_000238.4:c.545C>G MANE Select | NP_000229.1:p.Ser182Trp |