Revel Score:
ENST00000262186 (MANE Select)
0.905
ENST00000430723
0.905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974814G>T , CM000669.2:g.150974814G>T | GRCh38 |
| NC_000007.13:g.150671902G>T , CM000669.1:g.150671902G>T | GRCh37 |
| NC_000007.12:g.150302835G>T | NCBI36 |
| NG_008916.1:g.8113C>A , LRG_288:g.8113C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.204C>A MANE Select | ENSP00000262186.5:p.Phe68Leu | |
| ENST00000262186.9:c.204C>A | ENSP00000262186.5:p.Phe68Leu | |
| ENST00000430723.4:c.27C>A | ENSP00000387657.4:p.Phe9Leu | |
| ENST00000532957.5:n.427C>A | ||
| NM_000238.3:c.204C>A , LRG_288t1:c.204C>A | NP_000229.1:p.Phe68Leu | |
| NM_172056.2:c.204C>A , LRG_288t2:c.204C>A | NP_742053.1:p.Phe68Leu | |
| XM_011516186.1:c.204C>A | XP_011514488.1:p.Phe68Leu | |
| XM_011516186.3:c.204C>A | XP_011514488.1:p.Phe68Leu | |
| XM_017012196.1:c.27C>A | XP_016867685.1:p.Phe9Leu | |
| NM_000238.4:c.204C>A MANE Select | NP_000229.1:p.Phe68Leu |