Revel Score:
ENST00000347132 (MANE Select)
0.898
ENST00000509682
0.898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40818673A>T , CM000663.2:g.40818673A>T | GRCh38 |
| NC_000001.10:g.41284345A>T , CM000663.1:g.41284345A>T | GRCh37 |
| NC_000001.9:g.41056932A>T | NCBI36 |
| NG_008139.1:g.39662A>T | |
| NG_008139.2:g.39662A>T | |
| NG_008139.3:g.39887A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.701A>T MANE Select | ENSP00000262916.6:p.His234Leu | |
| ENST00000347132.9:c.701A>T | ENSP00000262916.6:p.His234Leu | |
| ENST00000443478.3:c.387A>T | ||
| ENST00000509682.6:c.701A>T | ENSP00000423756.2:p.His234Leu | |
| NM_004700.3:c.701A>T | NP_004691.2:p.His234Leu | |
| NM_172163.2:c.701A>T | NP_751895.1:p.His234Leu | |
| XM_011542417.1:c.701A>T | XP_011540719.1:p.His234Leu | |
| XM_011542418.1:c.701A>T | XP_011540720.1:p.His234Leu | |
| XM_011542419.1:c.701A>T | XP_011540721.1:p.His234Leu | |
| XM_011542420.1:c.701A>T | XP_011540722.1:p.His234Leu | |
| XR_946798.1:n.707A>T | ||
| XR_946799.1:n.707A>T | ||
| XR_946800.1:n.707A>T | ||
| NM_004700.4:c.701A>T MANE Select | NP_004691.2:p.His234Leu | |
| NM_172163.3:c.701A>T | NP_751895.1:p.His234Leu |