Revel Score:
ENST00000374994 (MANE Select)
0.964
ENST00000540092
0.964
ENST00000374990
0.964
ENST00000552516
0.964
ENST00000550253
0.964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99146498G>A , CM000671.2:g.99146498G>A | GRCh38 |
| NC_000009.11:g.101908780G>A , CM000671.1:g.101908780G>A | GRCh37 |
| NC_000009.10:g.100948601G>A | NCBI36 |
| NG_007461.1:g.46369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.937G>A | ENSP00000449934.2:p.Glu313Lys | |
| ENST00000552573.7:c.949G>A | ENSP00000447182.3:p.Glu317Lys | |
| ENST00000548365.6:c.*66G>A | ENSP00000448518.2:n.*66G>A | |
| ENST00000549021.6:c.706G>A | ENSP00000449028.2:p.Glu236Lys | |
| ENST00000698941.1:c.949G>A | ENSP00000514048.1:p.Glu317Lys | |
| ENST00000698942.1:c.*940G>A | ENSP00000514049.1:n.*940G>A | |
| ENST00000374994.9:c.1144G>A MANE Select | ENSP00000364133.4:p.Glu382Lys | |
| ENST00000374990.6:c.913G>A | ENSP00000364129.2:p.Glu305Lys | |
| ENST00000374994.8:c.1144G>A | ENSP00000364133.4:p.Glu382Lys | |
| ENST00000549766.5:c.1143-1156G>A | ENSP00000446685.1:n.1143-1156G>A | |
| ENST00000550253.1:c.937G>A | ENSP00000450052.1:p.Glu313Lys | |
| ENST00000552516.5:c.1156G>A | ENSP00000447297.1:p.Glu386Lys | |
| NM_001130916.1:c.913G>A | NP_001124388.1:p.Glu305Lys | |
| NM_001130916.2:c.913G>A | NP_001124388.1:p.Glu305Lys | |
| NM_001306210.1:c.1156G>A | NP_001293139.1:p.Glu386Lys | |
| NM_004612.2:c.1144G>A | NP_004603.1:p.Glu382Lys | |
| NM_004612.3:c.1144G>A | NP_004603.1:p.Glu382Lys | |
| XM_011518948.1:c.949G>A | XP_011517250.1:p.Glu317Lys | |
| XM_011518949.1:c.937G>A | XP_011517251.1:p.Glu313Lys | |
| XM_011518950.1:c.706G>A | XP_011517252.1:p.Glu236Lys | |
| XM_011518948.2:c.949G>A | XP_011517250.1:p.Glu317Lys | |
| XM_011518949.2:c.937G>A | XP_011517251.1:p.Glu313Lys | |
| XM_011518950.2:c.706G>A | XP_011517252.1:p.Glu236Lys | |
| XM_017015063.1:c.949G>A | XP_016870552.1:p.Glu317Lys | |
| XM_024447658.1:c.937G>A | XP_024303426.1:p.Glu313Lys | |
| NM_004612.4:c.1144G>A MANE Select | NP_004603.1:p.Glu382Lys | |
| NM_001130916.3:c.913G>A | NP_001124388.1:p.Glu305Lys | |
| NM_001306210.2:c.1156G>A | NP_001293139.1:p.Glu386Lys |