Revel Score:
ENST00000397752 (MANE Select)
0.906
ENST00000318493
0.906
ENST00000539704
0.906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116783353G>T , CM000669.2:g.116783353G>T | GRCh38 |
| NC_000007.13:g.116423407G>T , CM000669.1:g.116423407G>T | GRCh37 |
| NC_000007.12:g.116210643G>T | NCBI36 |
| NG_008996.1:g.115949G>T , LRG_662:g.115949G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*1287G>T | ENSP00000410980.2:n.*1287G>T | |
| ENST00000318493.11:c.3736G>T | ENSP00000317272.6:p.Asp1246Tyr | |
| ENST00000397752.8:c.3682G>T MANE Select | ENSP00000380860.3:p.Asp1228Tyr | |
| ENST00000318493.10:c.3736G>T | ENSP00000317272.6:p.Asp1246Tyr | |
| ENST00000397752.7:c.3682G>T | ENSP00000380860.3:p.Asp1228Tyr | |
| NM_000245.2:c.3682G>T | NP_000236.2:p.Asp1228Tyr | |
| NM_001127500.1:c.3736G>T , LRG_662t1:c.3736G>T | NP_001120972.1:p.Asp1246Tyr | |
| XM_006715990.2:c.2392G>T | XP_006716053.1:p.Asp798Tyr | |
| XM_006715991.2:c.2392G>T | XP_006716054.1:p.Asp798Tyr | |
| XM_011516223.1:c.3739G>T | XP_011514525.1:p.Asp1247Tyr | |
| NM_000245.3:c.3682G>T | NP_000236.2:p.Asp1228Tyr | |
| NM_001127500.2:c.3736G>T | NP_001120972.1:p.Asp1246Tyr | |
| NM_001324402.1:c.2392G>T | NP_001311331.1:p.Asp798Tyr | |
| XR_001744772.1:n.3813G>T | ||
| NM_001127500.3:c.3736G>T | NP_001120972.1:p.Asp1246Tyr | |
| NM_000245.4:c.3682G>T MANE Select | NP_000236.2:p.Asp1228Tyr | |
| NM_001324402.2:c.2392G>T | NP_001311331.1:p.Asp798Tyr |