Revel Score:
ENST00000261643 (MANE Select)
0.988
ENST00000536205
0.988
ENST00000537334
0.988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14206888A>G , CM000679.2:g.14206888A>G | GRCh38 |
| NC_000017.10:g.14110205A>G , CM000679.1:g.14110205A>G | GRCh37 |
| NC_000017.9:g.14050930A>G | NCBI36 |
| NG_008034.1:g.142487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.1007A>G MANE Select | ENSP00000261643.3:p.Asp336Gly | |
| ENST00000664217.1:c.1007A>G | ENSP00000499396.1:p.Asp336Gly | |
| ENST00000670279.1:c.929-2621A>G | ENSP00000499450.1:n.929-2621A>G | |
| ENST00000261643.7:c.1007A>G | ENSP00000261643.3:p.Asp336Gly | |
| ENST00000580561.1:c.*496A>G | ENSP00000462190.1:n.*496A>G | |
| ENST00000581931.5:c.*375A>G | ENSP00000462512.1:n.*375A>G | |
| NM_001303.3:c.1007A>G | NP_001294.2:p.Asp336Gly | |
| XM_011523657.1:c.*3A>G | XP_011521959.1:n.*3A>G | |
| XM_011523658.1:c.431A>G | XP_011521960.1:p.Asp144Gly | |
| XR_933974.1:n.1032-2621A>G | ||
| NM_001303.4:c.1007A>G MANE Select | NP_001294.2:p.Asp336Gly |