Revel Score:
ENST00000383036
0.167
ENST00000383037
0.167
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6868402C>G , CM000686.2:g.6868402C>G | GRCh38 |
| NC_000024.9:g.6736443C>G , CM000686.1:g.6736443C>G | GRCh37 |
| NC_000024.8:g.6796443C>G | NCBI36 |
| NG_008011.1:g.10626G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651267.2:c.208G>C MANE Select | ENSP00000498344.1:p.Val70Leu | |
| ENST00000215479.10:c.208G>C | ENSP00000215479.5:p.Val70Leu | |
| ENST00000651267.1:c.208G>C | ENSP00000498344.1:p.Val70Leu | |
| ENST00000215479.9:c.208G>C | ENSP00000215479.5:p.Val70Leu | |
| ENST00000383036.1:c.250G>C | ENSP00000372505.1:p.Val84Leu | |
| NM_001143.1:c.208G>C | NP_001134.1:p.Val70Leu | |
| XM_011531472.1:c.250G>C | XP_011529774.1:p.Val84Leu | |
| NM_001364814.1:c.250G>C | NP_001351743.1:p.Val84Leu | |
| NM_001143.2:c.208G>C MANE Select | NP_001134.1:p.Val70Leu |