Revel Score:
ENST00000348749 (MANE Select)
0.588
ENST00000261007
0.588
ENST00000409542
0.588
ENST00000409219
0.588
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174750082C>A , CM000664.2:g.174750082C>A | GRCh38 |
| NC_000002.11:g.175614810C>A , CM000664.1:g.175614810C>A | GRCh37 |
| NC_000002.10:g.175323056C>A | NCBI36 |
| NG_008172.1:g.19391G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.377G>T | ENSP00000490338.2:p.Ser126Ile | |
| ENST00000672640.1:c.377G>T | ENSP00000500507.1:p.Ser126Ile | |
| ENST00000261007.9:c.941G>T | ENSP00000261007.5:p.Ser314Ile | |
| ENST00000348749.9:c.866G>T MANE Select | ENSP00000261008.5:p.Ser289Ile | |
| ENST00000409219.5:c.866G>T | ENSP00000386611.1:p.Ser289Ile | |
| ENST00000409542.5:c.620G>T | ENSP00000387026.1:p.Ser207Ile | |
| ENST00000435083.5:c.*510G>T | ENSP00000395805.1:n.*510G>T | |
| NM_000079.3:c.866G>T | NP_000070.1:p.Ser289Ile | |
| NM_001039523.2:c.941G>T | NP_001034612.1:p.Ser314Ile | |
| XM_017003256.1:c.962G>T | XP_016858745.1:p.Ser321Ile | |
| XM_017003257.1:c.887G>T | XP_016858746.1:p.Ser296Ile | |
| NM_000079.4:c.866G>T MANE Select | NP_000070.1:p.Ser289Ile | |
| NM_001039523.3:c.941G>T | NP_001034612.1:p.Ser314Ile |