Revel Score:
ENST00000299314 (MANE Select)
0.895
ENST00000549940
0.895
ENST00000552681
0.895
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786038A>T , CM000674.2:g.101786038A>T | GRCh38 |
| NC_000012.11:g.102179816A>T , CM000674.1:g.102179816A>T | GRCh37 |
| NC_000012.10:g.100703947A>T | NCBI36 |
| NG_021243.1:g.49830T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.545T>A MANE Select | ENSP00000299314.7:p.Val182Asp | |
| ENST00000299314.11:c.545T>A | ENSP00000299314.7:p.Val182Asp | |
| ENST00000549940.5:c.545T>A | ENSP00000449150.1:p.Val182Asp | |
| ENST00000550352.1:n.339T>A | ||
| ENST00000552681.1:c.179T>A | ENSP00000449217.1:p.Val60Asp | |
| NM_024312.4:c.545T>A | NP_077288.2:p.Val182Asp | |
| XM_006719593.2:c.545T>A | XP_006719656.1:p.Val182Asp | |
| XM_011538731.1:c.464T>A | XP_011537033.1:p.Val155Asp | |
| XM_006719593.3:c.545T>A | XP_006719656.1:p.Val182Asp | |
| XM_011538731.2:c.464T>A | XP_011537033.1:p.Val155Asp | |
| XM_017019961.1:c.329T>A | XP_016875450.1:p.Val110Asp | |
| XM_017019962.2:c.-806T>A | XP_016875451.1:n.-806T>A | |
| NM_024312.5:c.545T>A MANE Select | NP_077288.2:p.Val182Asp |