Revel Score:
ENST00000392386 (MANE Select)
0.831
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18598886G>A , CM000681.2:g.18598886G>A | GRCh38 |
| NC_000019.9:g.18709696G>A , CM000681.1:g.18709696G>A | GRCh37 |
| NC_000019.8:g.18570696G>A | NCBI36 |
| NG_013370.1:g.12965C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.413C>T | ENSP00000506849.1:p.Pro138Leu | |
| ENST00000392386.8:c.413C>T MANE Select | ENSP00000376188.2:p.Pro138Leu | |
| ENST00000392386.7:c.413C>T | ENSP00000376188.2:p.Pro138Leu | |
| NM_004750.4:c.413C>T | NP_004741.1:p.Pro138Leu | |
| XM_011528422.1:c.347C>T | XP_011526724.1:p.Pro116Leu | |
| XM_011528423.1:c.413C>T | XP_011526725.1:p.Pro138Leu | |
| XM_011528424.1:c.347C>T | XP_011526726.1:p.Pro116Leu | |
| XM_011528422.2:c.347C>T | XP_011526724.1:p.Pro116Leu | |
| XM_011528423.2:c.413C>T | XP_011526725.1:p.Pro138Leu | |
| XM_011528424.3:c.347C>T | XP_011526726.1:p.Pro116Leu | |
| NM_004750.5:c.413C>T MANE Select | NP_004741.1:p.Pro138Leu |