Revel Score:
ENST00000393302
0.909
ENST00000227266 (MANE Select)
0.909
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294163T>C , CM000673.2:g.88294163T>C | GRCh38 |
| NC_000011.9:g.88027331T>C , CM000673.1:g.88027331T>C | GRCh37 |
| NC_000011.8:g.87666979T>C | NCBI36 |
| NG_007952.1:g.48611A>G , LRG_50:g.48611A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.1235A>G MANE Select | ENSP00000227266.4:p.Tyr412Cys | |
| ENST00000533897.2:n.5548A>G | ||
| ENST00000676612.1:c.*1042A>G | ENSP00000504440.1:n.*1042A>G | |
| ENST00000677208.1:c.*741A>G | ENSP00000504347.1:n.*741A>G | |
| ENST00000677661.1:c.*912A>G | ENSP00000503323.1:n.*912A>G | |
| ENST00000677802.1:c.*912A>G | ENSP00000504115.1:n.*912A>G | |
| ENST00000678395.1:c.*741A>G | ENSP00000503123.1:n.*741A>G | |
| ENST00000678464.1:c.1202A>G | ENSP00000503046.1:p.Tyr401Cys | |
| ENST00000678506.1:c.1196A>G | ENSP00000503580.1:p.Tyr399Cys | |
| ENST00000678520.1:c.*886A>G | ENSP00000503361.1:n.*886A>G | |
| ENST00000678554.1:c.889+1970A>G | ENSP00000504541.1:n.889+1970A>G | |
| ENST00000678915.1:c.1103A>G | ENSP00000504805.1:p.Tyr368Cys | |
| ENST00000679224.1:c.872A>G | ENSP00000504475.1:p.Tyr291Cys | |
| ENST00000227266.9:c.1235A>G | ENSP00000227266.4:p.Tyr412Cys | |
| ENST00000533897.1:n.3969A>G | ||
| NM_001814.4:c.1235A>G , LRG_50t1:c.1235A>G | NP_001805.3:p.Tyr412Cys | |
| NM_001814.5:c.1235A>G | NP_001805.3:p.Tyr412Cys | |
| NM_001814.6:c.1235A>G MANE Select | NP_001805.4:p.Tyr412Cys |