Revel Score:
ENST00000319104
0.073
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42850904C>G , CM000670.2:g.42850904C>G | GRCh38 |
| NC_000008.10:g.42706047C>G , CM000670.1:g.42706047C>G | GRCh37 |
| NC_000008.9:g.42825204C>G | NCBI36 |
| NG_032868.1:g.50820G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319104.7:c.490G>C | ENSP00000326138.3:p.Gly164Arg | |
| NM_001160224.1:c.490G>C | NP_001153696.1:p.Gly164Arg | |
| NM_001160224.2:c.490G>C | NP_001153696.1:p.Gly164Arg |