Revel Score:
ENST00000262367 (MANE Select)
0.877
ENST00000543883
0.877
ENST00000382070
0.877
ENST00000323508
0.877
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3738672C>A , CM000678.2:g.3738672C>A | GRCh38 |
| NC_000016.9:g.3788673C>A , CM000678.1:g.3788673C>A | GRCh37 |
| NC_000016.8:g.3728674C>A | NCBI36 |
| NG_009873.1:g.146449G>T | |
| NG_009873.2:g.147042G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4281G>T MANE Select | ENSP00000262367.5:p.Arg1427Ser | |
| ENST00000262367.9:c.4281G>T | ENSP00000262367.5:p.Arg1427Ser | |
| ENST00000382070.7:c.4167G>T | ENSP00000371502.3:p.Arg1389Ser | |
| ENST00000570939.2:c.2916G>T | ENSP00000461002.2:p.Arg972Ser | |
| ENST00000574740.1:n.215+1727G>T | ||
| ENST00000576720.1:n.3217+906G>T | ||
| NM_001079846.1:c.4167G>T | NP_001073315.1:p.Arg1389Ser | |
| NM_004380.2:c.4281G>T | NP_004371.2:p.Arg1427Ser | |
| XM_005255124.3:c.4236G>T | XP_005255181.1:p.Arg1412Ser | |
| XM_005255125.3:c.3864G>T | XP_005255182.1:p.Arg1288Ser | |
| XM_006720848.2:c.4133+1727G>T | XP_006720911.1:n.4133+1727G>T | |
| XM_011522380.1:c.4227G>T | XP_011520682.1:p.Arg1409Ser | |
| XM_011522381.1:c.3528G>T | XP_011520683.1:p.Arg1176Ser | |
| XM_005255124.4:c.4236G>T | XP_005255181.1:p.Arg1412Ser | |
| XM_005255125.4:c.3864G>T | XP_005255182.1:p.Arg1288Ser | |
| XM_006720848.3:c.4133+1727G>T | XP_006720911.1:n.4133+1727G>T | |
| XM_011522381.2:c.3528G>T | XP_011520683.1:p.Arg1176Ser | |
| XM_017022944.1:c.4275G>T | XP_016878433.1:p.Arg1425Ser | |
| NM_004380.3:c.4281G>T MANE Select | NP_004371.2:p.Arg1427Ser |