Revel Score:
ENST00000258781 (MANE Select)
0.235
ENST00000541586
0.235
ENST00000544363
0.235
ENST00000543541
0.235
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45000334A>G , CM000669.2:g.45000334A>G | GRCh38 |
| NC_000007.13:g.45039933A>G , CM000669.1:g.45039933A>G | GRCh37 |
| NC_000007.12:g.45006458A>G | NCBI36 |
| NG_016295.1:g.5147A>G , LRG_664:g.5147A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258781.11:c.1A>G MANE Select | ENSP00000258781.7:p.Met1Val | |
| ENST00000648329.1:c.1A>G | ENSP00000496916.1:p.Met1Val | |
| ENST00000258781.10:c.1A>G | ENSP00000258781.6:p.Met1Val | |
| ENST00000461377.5:n.383+477A>G | ||
| ENST00000478582.5:n.146A>G | ||
| ENST00000488727.5:c.1A>G | ENSP00000417251.1:p.Met1Val | |
| ENST00000541586.5:c.1A>G | ENSP00000444725.1:p.Met1Val | |
| ENST00000544363.5:c.1A>G | ENSP00000438035.1:p.Met1Val | |
| NM_001167934.1:c.1A>G | NP_001161406.1:p.Met1Val | |
| NM_001167935.1:c.1A>G | NP_001161407.1:p.Met1Val | |
| NM_031443.3:c.1A>G , LRG_664t2:c.1A>G | NP_113631.1:p.Met1Val | |
| NR_030770.1:n.112+477A>G | ||
| XM_011515562.1:c.1A>G | XP_011513864.1:p.Met1Val | |
| XM_011515564.1:c.1A>G | XP_011513866.1:p.Met1Val | |
| NM_001363458.1:c.1A>G | NP_001350387.1:p.Met1Val | |
| NM_001363459.1:c.1A>G | NP_001350388.1:p.Met1Val | |
| XM_017012673.1:c.1A>G | XP_016868162.1:p.Met1Val | |
| NM_001363458.2:c.1A>G | NP_001350387.1:p.Met1Val | |
| NM_001363459.2:c.1A>G | NP_001350388.1:p.Met1Val | |
| NM_031443.4:c.1A>G MANE Select | NP_113631.1:p.Met1Val | |
| NR_030770.2:n.112+477A>G | ||
| NM_001167934.2:c.1A>G | NP_001161406.1:p.Met1Val | |
| NM_001167935.2:c.1A>G | NP_001161407.1:p.Met1Val |