Revel Score:
ENST00000368984 (MANE Select)
0.927
ENST00000435263
0.927
ENST00000420892
0.927
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506767C>T , CM000672.2:g.122506767C>T | GRCh38 |
| NC_000010.10:g.124266283C>T , CM000672.1:g.124266283C>T | GRCh37 |
| NC_000010.9:g.124256273C>T | NCBI36 |
| NG_011554.1:g.50243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.854C>T MANE Select | ENSP00000357980.3:p.Pro285Leu | |
| ENST00000648167.1:c.536C>T | ENSP00000498033.1:p.Pro179Leu | |
| ENST00000368984.7:c.854C>T | ENSP00000357980.3:p.Pro285Leu | |
| ENST00000420892.1:c.77C>T | ENSP00000412676.1:p.Pro26Leu | |
| NM_002775.4:c.854C>T | NP_002766.1:p.Pro285Leu | |
| NM_002775.5:c.854C>T MANE Select | NP_002766.1:p.Pro285Leu |