Revel Score:
ENST00000205402 (MANE Select)
0.803
ENST00000417551
0.803
ENST00000537148
0.803
ENST00000440410
0.803
ENST00000437604
0.803
ENST00000539590
0.803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107919079A>G , CM000669.2:g.107919079A>G | GRCh38 |
| NC_000007.13:g.107559524A>G , CM000669.1:g.107559524A>G | GRCh37 |
| NC_000007.12:g.107346760A>G | NCBI36 |
| NG_008045.1:g.32939A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1444A>G MANE Select | ENSP00000205402.3:p.Arg482Gly | |
| ENST00000205402.9:c.1444A>G | ENSP00000205402.3:p.Arg482Gly | |
| ENST00000415325.5:c.*1118A>G | ENSP00000402593.1:n.*1118A>G | |
| ENST00000417551.5:c.1444A>G | ENSP00000390667.1:p.Arg482Gly | |
| ENST00000437604.6:c.1300A>G | ENSP00000387542.2:p.Arg434Gly | |
| ENST00000440410.5:c.1375A>G | ENSP00000417016.1:p.Arg459Gly | |
| NM_000108.4:c.1444A>G | NP_000099.2:p.Arg482Gly | |
| NM_001289750.1:c.1147A>G | NP_001276679.1:p.Arg383Gly | |
| NM_001289751.1:c.1375A>G | NP_001276680.1:p.Arg459Gly | |
| NM_001289752.1:c.1300A>G | NP_001276681.1:p.Arg434Gly | |
| NM_000108.5:c.1444A>G MANE Select | NP_000099.2:p.Arg482Gly |