Revel Score:
ENST00000278407 (MANE Select)
0.643
ENST00000340687
0.643
ENST00000378323
0.643
ENST00000378324
0.643
ENST00000403558
0.643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614472C>T , CM000673.2:g.57614472C>T | GRCh38 |
| NC_000011.9:g.57381945C>T , CM000673.1:g.57381945C>T | GRCh37 |
| NC_000011.8:g.57138521C>T | NCBI36 |
| NG_009625.1:g.21919C>T , LRG_105:g.21919C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.1394C>T MANE Select | ENSP00000278407.4:p.Ala465Val | |
| ENST00000528996.2:c.*291C>T | ENSP00000431226.2:n.*291C>T | |
| ENST00000531605.2:c.*1170C>T | ENSP00000503752.1:n.*1170C>T | |
| ENST00000619430.2:c.1190C>T | ENSP00000478572.2:p.Ala397Val | |
| ENST00000676670.1:c.1394C>T | ENSP00000504807.1:p.Ala465Val | |
| ENST00000676741.1:n.2476C>T | ||
| ENST00000677624.1:c.*814C>T | ENSP00000503979.1:n.*814C>T | |
| ENST00000677625.1:c.1340C>T | ENSP00000502857.1:p.Ala447Val | |
| ENST00000677856.1:n.1647C>T | ||
| ENST00000677915.1:c.*291C>T | ENSP00000503118.1:n.*291C>T | |
| ENST00000678533.1:c.*948C>T | ENSP00000503873.1:n.*948C>T | |
| ENST00000678592.1:c.*334C>T | ENSP00000504424.1:n.*334C>T | |
| ENST00000278407.8:c.1394C>T | ENSP00000278407.4:p.Ala465Val | |
| ENST00000340687.10:c.1283C>T | ENSP00000341861.6:p.Ala428Val | |
| ENST00000378323.8:c.1409C>T | ENSP00000367574.4:p.Ala470Val | |
| ENST00000378324.6:c.1238C>T | ENSP00000367575.2:p.Ala413Val | |
| ENST00000403558.1:c.1523C>T | ENSP00000384420.1:p.Ala508Val | |
| ENST00000528996.1:c.595C>T | ENSP00000431226.1:n.595C>T | |
| ENST00000530113.1:n.851C>T | ||
| ENST00000531133.5:c.895C>T | ENSP00000435431.1:n.895C>T | |
| ENST00000531797.5:c.*419C>T | ENSP00000432554.1:n.*419C>T | |
| ENST00000619430.1:c.525C>T | ENSP00000478572.1:n.525C>T | |
| NM_000062.2:c.1394C>T , LRG_105t1:c.1394C>T | NP_000053.2:p.Ala465Val | |
| NM_001032295.1:c.1394C>T | NP_001027466.1:p.Ala465Val | |
| NM_000062.3:c.1394C>T MANE Select | NP_000053.2:p.Ala465Val | |
| NM_001032295.2:c.1394C>T | NP_001027466.1:p.Ala465Val |