Revel Score:
ENST00000268124 (MANE Select)
0.877
ENST00000442287
0.877
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89333493A>G , CM000677.2:g.89333493A>G | GRCh38 |
| NC_000015.9:g.89876724A>G , CM000677.1:g.89876724A>G | GRCh37 |
| NC_000015.8:g.87677728A>G | NCBI36 |
| NG_008218.1:g.6303T>C | |
| NG_008218.2:g.6303T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.262T>C (POLG) | ENSP00000516154.1:p.Phe88Leu | |
| ENST00000706918.1:c.317T>C (POLGARF) | ENSP00000516626.1:p.Leu106Pro | |
| ENST00000268124.11:c.262T>C (POLG) MANE Select | ENSP00000268124.5:p.Phe88Leu | |
| ENST00000635986.2:c.262T>C (POLG) | ENSP00000490653.2:p.Phe88Leu | |
| ENST00000636774.1:c.262T>C (POLG) | ENSP00000489799.1:p.Phe88Leu | |
| ENST00000650303.2:c.317T>C (POLG) | ENSP00000497242.2:p.Leu106Pro | |
| ENST00000672071.1:n.460T>C (POLG) | ||
| ENST00000268124.9:c.262T>C (POLG) | ENSP00000268124.5:p.Phe88Leu | |
| ENST00000442287.6:c.262T>C (POLG) | ENSP00000399851.2:p.Phe88Leu | |
| ENST00000631044.2:c.262T>C (POLG) | ENSP00000486730.1:p.Phe88Leu | |
| NM_001126131.1:c.262T>C (POLG) | NP_001119603.1:p.Phe88Leu | |
| NM_002693.2:c.262T>C (POLG) | NP_002684.1:p.Phe88Leu | |
| NM_001126131.2:c.262T>C (POLG) | NP_001119603.1:p.Phe88Leu | |
| NM_002693.3:c.262T>C (POLG) MANE Select | NP_002684.1:p.Phe88Leu |