Revel Score:
ENST00000447944 (MANE Select)
0.153
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55672999G>C , CM000664.2:g.55672999G>C | GRCh38 |
| NC_000002.11:g.55900134G>C , CM000664.1:g.55900134G>C | GRCh37 |
| NC_000002.10:g.55753638G>C | NCBI36 |
| NG_033012.1:g.25912C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.760C>G MANE Select | ENSP00000400646.2:p.Gln254Glu | |
| ENST00000260604.8:c.*315C>G | ENSP00000260604.4:n.*315C>G | |
| ENST00000415374.5:c.760C>G | ENSP00000393953.1:p.Gln254Glu | |
| ENST00000447944.6:c.760C>G | ENSP00000400646.2:p.Gln254Glu | |
| NM_033109.4:c.760C>G | NP_149100.2:p.Gln254Glu | |
| XM_005264629.1:c.520C>G | XP_005264686.1:p.Gln174Glu | |
| XM_011533142.1:c.760C>G | XP_011531444.1:p.Gln254Glu | |
| XM_005264629.2:c.520C>G | XP_005264686.1:p.Gln174Glu | |
| XM_017005172.1:c.520C>G | XP_016860661.1:p.Gln174Glu | |
| XR_001739010.1:n.790C>G | ||
| NM_033109.5:c.760C>G MANE Select | NP_149100.2:p.Gln254Glu |