Revel Score:
ENST00000299178 (MANE Select)
0.693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63150431A>G , CM000674.2:g.63150431A>G | GRCh38 |
| NC_000012.11:g.63544211A>G , CM000674.1:g.63544211A>G | GRCh37 |
| NC_000012.10:g.61830478A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299178.4:c.406T>C MANE Select | ENSP00000299178.3:p.Phe136Leu | |
| ENST00000299178.3:c.406T>C | ENSP00000299178.2:p.Phe136Leu | |
| NM_000706.4:c.406T>C | NP_000697.1:p.Phe136Leu | |
| XM_005269002.3:c.415T>C | XP_005269059.1:p.Phe139Leu | |
| NM_000706.5:c.406T>C MANE Select | NP_000697.1:p.Phe136Leu |