Revel Score:
ENST00000262186 (MANE Select)
0.621
ENST00000430723
0.621
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974868C>A , CM000669.2:g.150974868C>A | GRCh38 |
| NC_000007.13:g.150671956C>A , CM000669.1:g.150671956C>A | GRCh37 |
| NC_000007.12:g.150302889C>A | NCBI36 |
| NG_008916.1:g.8059G>T , LRG_288:g.8059G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.150G>T MANE Select | ENSP00000262186.5:p.Glu50Asp | |
| ENST00000262186.9:c.150G>T | ENSP00000262186.5:p.Glu50Asp | |
| ENST00000430723.4:c.-28G>T | ENSP00000387657.4:n.-28G>T | |
| ENST00000532957.5:n.373G>T | ||
| NM_000238.3:c.150G>T , LRG_288t1:c.150G>T | NP_000229.1:p.Glu50Asp | |
| NM_172056.2:c.150G>T , LRG_288t2:c.150G>T | NP_742053.1:p.Glu50Asp | |
| XM_011516186.1:c.150G>T | XP_011514488.1:p.Glu50Asp | |
| XM_011516186.3:c.150G>T | XP_011514488.1:p.Glu50Asp | |
| XM_017012196.1:c.-28G>T | XP_016867685.1:n.-28G>T | |
| NM_000238.4:c.150G>T MANE Select | NP_000229.1:p.Glu50Asp |