Revel Score:
ENST00000505710
0.704
ENST00000513615
0.824
ENST00000281243 (MANE Select)
0.824
ENST00000428702
0.824
ENST00000508623
0.824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17501833A>C , CM000666.2:g.17501833A>C | GRCh38 |
| NC_000004.11:g.17503456A>C , CM000666.1:g.17503456A>C | GRCh37 |
| NC_000004.10:g.17112554A>C | NCBI36 |
| NG_008763.1:g.15402T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706645.1:n.1369T>G | ||
| ENST00000281243.10:c.322T>G MANE Select | ENSP00000281243.5:p.Trp108Gly | |
| ENST00000281243.9:c.322T>G | ENSP00000281243.5:p.Trp108Gly | |
| ENST00000428702.6:c.229T>G | ENSP00000390944.2:p.Trp77Gly | |
| ENST00000505710.1:c.249T>G | ||
| ENST00000507439.5:c.322T>G | ENSP00000423227.1:p.Trp108Gly | |
| ENST00000508623.5:c.322T>G | ENSP00000426377.1:p.Trp108Gly | |
| ENST00000513615.5:c.322T>G | ENSP00000422759.1:p.Trp108Gly | |
| ENST00000514300.1:c.*253T>G | ENSP00000426039.1:n.*253T>G | |
| NM_000320.2:c.322T>G | NP_000311.2:p.Trp108Gly | |
| NM_001306140.1:c.229T>G | NP_001293069.1:p.Trp77Gly | |
| XR_241677.1:n.485T>G | ||
| NR_156494.1:n.502T>G | ||
| NM_000320.3:c.322T>G MANE Select | NP_000311.2:p.Trp108Gly | |
| NM_001306140.2:c.229T>G | NP_001293069.1:p.Trp77Gly | |
| NR_156494.2:n.358T>G |