Revel Score:
ENST00000378454 (MANE Select)
0.124
ENST00000378450
0.124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178332C>G , CM000668.2:g.24178332C>G | GRCh38 |
| NC_000006.11:g.24178560C>G , CM000668.1:g.24178560C>G | GRCh37 |
| NC_000006.10:g.24286539C>G | NCBI36 |
| NG_012829.1:g.184721G>C | |
| NG_012829.2:g.209961G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.1324G>C MANE Select | ENSP00000367715.3:p.Glu442Gln | |
| ENST00000378450.6:c.583G>C | ENSP00000367711.3:p.Glu195Gln | |
| ENST00000378454.7:c.1324G>C | ENSP00000367715.3:p.Glu442Gln | |
| NM_001195610.1:c.1324G>C | NP_001182539.1:p.Glu442Gln | |
| NM_016356.4:c.1324G>C | NP_057440.2:p.Glu442Gln | |
| NM_016356.5:c.1324G>C MANE Select | NP_057440.2:p.Glu442Gln | |
| NM_001195610.2:c.1324G>C | NP_001182539.1:p.Glu442Gln |