Revel Score:
ENST00000439351
0.889
ENST00000265028 (MANE Select)
0.889
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186575844T>C , CM000665.2:g.186575844T>C | GRCh38 |
| NC_000003.11:g.186293633T>C , CM000665.1:g.186293633T>C | GRCh37 |
| NC_000003.10:g.187776327T>C | NCBI36 |
| NG_034024.1:g.10169T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265028.8:c.230T>C MANE Select | ENSP00000265028.3:p.Leu77Pro | |
| ENST00000464877.2:n.428T>C | ||
| ENST00000495390.2:n.428T>C | ||
| ENST00000680338.1:c.230T>C | ENSP00000505624.1:p.Leu77Pro | |
| ENST00000265028.7:c.230T>C | ENSP00000265028.3:p.Leu77Pro | |
| ENST00000439351.5:c.230T>C | ENSP00000414398.1:p.Leu77Pro | |
| ENST00000464877.1:n.153T>C | ||
| NM_016306.5:c.230T>C | NP_057390.1:p.Leu77Pro | |
| NM_001378451.1:c.230T>C | NP_001365380.1:p.Leu77Pro | |
| NM_016306.6:c.230T>C MANE Select | NP_057390.1:p.Leu77Pro | |
| NR_165638.1:n.408T>C | ||
| NR_165639.1:n.408T>C | ||
| NR_165640.1:n.408T>C | ||
| NR_165641.1:n.408T>C | ||
| NR_165642.1:n.408T>C | ||
| NR_165643.1:n.408T>C |