Revel Score:
ENST00000392968
0.438
ENST00000262186 (MANE Select)
0.438
ENST00000430723
0.438
gnomAD v4:
Joint Max Group AF
0.00000381 (NFE)
Exomes Max Group AF
0.00000406 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958430G>A , CM000669.2:g.150958430G>A | GRCh38 |
| NC_000007.13:g.150655518G>A , CM000669.1:g.150655518G>A | GRCh37 |
| NC_000007.12:g.150286451G>A | NCBI36 |
| NG_008916.1:g.24497C>T , LRG_288:g.24497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1378C>T | ||
| ENST00000262186.10:c.545C>T MANE Select | ENSP00000262186.5:p.Ser182Leu | |
| ENST00000262186.9:c.545C>T | ENSP00000262186.5:p.Ser182Leu | |
| ENST00000430723.4:c.235-38C>T | ENSP00000387657.4:n.235-38C>T | |
| ENST00000532957.5:n.768C>T | ||
| NM_000238.3:c.545C>T , LRG_288t1:c.545C>T | NP_000229.1:p.Ser182Leu | |
| NM_172056.2:c.545C>T , LRG_288t2:c.545C>T | NP_742053.1:p.Ser182Leu | |
| XM_011516185.1:c.245C>T | XP_011514487.1:p.Ser82Leu | |
| XM_011516186.1:c.545C>T | XP_011514488.1:p.Ser182Leu | |
| XM_011516185.2:c.245C>T | XP_011514487.1:p.Ser82Leu | |
| XM_011516186.3:c.545C>T | XP_011514488.1:p.Ser182Leu | |
| XM_017012195.1:c.395C>T | XP_016867684.1:p.Ser132Leu | |
| XM_017012196.1:c.368C>T | XP_016867685.1:p.Ser123Leu | |
| NM_000238.4:c.545C>T MANE Select | NP_000229.1:p.Ser182Leu |