Revel Score:
ENST00000261769 (MANE Select)
0.273
ENST00000379120
0.273
ENST00000422392
0.273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823489A>T , CM000678.2:g.68823489A>T | GRCh38 |
| NC_000016.9:g.68857392A>T , CM000678.1:g.68857392A>T | GRCh37 |
| NC_000016.8:g.67414893A>T | NCBI36 |
| NG_008021.1:g.91198A>T , LRG_301:g.91198A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2027A>T MANE Select | ENSP00000261769.4:p.Asp676Val | |
| ENST00000261769.9:c.2027A>T | ENSP00000261769.4:p.Asp676Val | |
| ENST00000422392.6:c.1844A>T | ENSP00000414946.2:p.Asp615Val | |
| ENST00000562118.1:n.245A>T | ||
| ENST00000562836.5:n.2098A>T | ||
| ENST00000566510.5:c.*693A>T | ENSP00000458139.1:n.*693A>T | |
| ENST00000566612.5:c.*267A>T | ENSP00000454782.1:n.*267A>T | |
| ENST00000611625.4:c.2090A>T | ENSP00000481063.1:p.Asp697Val | |
| ENST00000612417.4:c.1830+1370A>T | ENSP00000478360.1:n.1830+1370A>T | |
| ENST00000621016.4:c.1865+1335A>T | ENSP00000480664.1:n.1865+1335A>T | |
| NM_004360.3:c.2027A>T , LRG_301t1:c.2027A>T | NP_004351.1:p.Asp676Val | |
| XM_011523488.1:c.1292A>T | XP_011521790.1:p.Asp431Val | |
| XM_011523489.1:c.1292A>T | XP_011521791.1:p.Asp431Val | |
| NM_001317184.1:c.1844A>T | NP_001304113.1:p.Asp615Val | |
| NM_001317185.1:c.479A>T | NP_001304114.1:p.Asp160Val | |
| NM_001317186.1:c.62A>T | NP_001304115.1:p.Asp21Val | |
| NM_004360.4:c.2027A>T | NP_004351.1:p.Asp676Val | |
| NM_004360.5:c.2027A>T MANE Select | NP_004351.1:p.Asp676Val | |
| NM_001317184.2:c.1844A>T | NP_001304113.1:p.Asp615Val | |
| NM_001317185.2:c.479A>T | NP_001304114.1:p.Asp160Val | |
| NM_001317186.2:c.62A>T | NP_001304115.1:p.Asp21Val |