Revel Score:
ENST00000368984 (MANE Select)
0.848
ENST00000435263
0.848
ENST00000420892
0.848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508741T>C , CM000672.2:g.122508741T>C | GRCh38 |
| NC_000010.10:g.124268257T>C , CM000672.1:g.124268257T>C | GRCh37 |
| NC_000010.9:g.124258247T>C | NCBI36 |
| NG_011554.1:g.52217T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1091T>C MANE Select | ENSP00000357980.3:p.Leu364Pro | |
| ENST00000648167.1:c.773T>C | ENSP00000498033.1:p.Leu258Pro | |
| ENST00000368984.7:c.1091T>C | ENSP00000357980.3:p.Leu364Pro | |
| ENST00000420892.1:c.314T>C | ENSP00000412676.1:p.Leu105Pro | |
| NM_002775.4:c.1091T>C | NP_002766.1:p.Leu364Pro | |
| NM_002775.5:c.1091T>C MANE Select | NP_002766.1:p.Leu364Pro |