Revel Score:
ENST00000348749 (MANE Select)
0.839
ENST00000261007
0.839
ENST00000409542
0.839
ENST00000409219
0.839
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174750127G>A , CM000664.2:g.174750127G>A | GRCh38 |
| NC_000002.11:g.175614855G>A , CM000664.1:g.175614855G>A | GRCh37 |
| NC_000002.10:g.175323101G>A | NCBI36 |
| NG_008172.1:g.19346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.332C>T | ENSP00000490338.2:p.Thr111Ile | |
| ENST00000672640.1:c.332C>T | ENSP00000500507.1:p.Thr111Ile | |
| ENST00000261007.9:c.896C>T | ENSP00000261007.5:p.Thr299Ile | |
| ENST00000348749.9:c.821C>T MANE Select | ENSP00000261008.5:p.Thr274Ile | |
| ENST00000409219.5:c.821C>T | ENSP00000386611.1:p.Thr274Ile | |
| ENST00000409542.5:c.575C>T | ENSP00000387026.1:p.Thr192Ile | |
| ENST00000435083.5:c.*465C>T | ENSP00000395805.1:n.*465C>T | |
| NM_000079.3:c.821C>T | NP_000070.1:p.Thr274Ile | |
| NM_001039523.2:c.896C>T | NP_001034612.1:p.Thr299Ile | |
| XM_017003256.1:c.917C>T | XP_016858745.1:p.Thr306Ile | |
| XM_017003257.1:c.842C>T | XP_016858746.1:p.Thr281Ile | |
| NM_000079.4:c.821C>T MANE Select | NP_000070.1:p.Thr274Ile | |
| NM_001039523.3:c.896C>T | NP_001034612.1:p.Thr299Ile |