Revel Score:
ENST00000398590
0.055
ENST00000295900
0.055
ENST00000487717
0.055
ENST00000538065
0.055
ENST00000484332
0.055
ENST00000522345
0.055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.63996406G>C , CM000665.2:g.63996406G>C | GRCh38 |
| NC_000003.11:g.63982082G>C , CM000665.1:g.63982082G>C | GRCh37 |
| NC_000003.10:g.63957122G>C | NCBI36 |
| NG_008227.1:g.136850G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522345.2:c.2584G>C | ENSP00000428067.2:p.Val862Leu | |
| ENST00000674280.1:c.2584G>C MANE Select | ENSP00000501377.1:p.Val862Leu | |
| ENST00000295900.10:c.2584G>C | ENSP00000295900.6:p.Val862Leu | |
| ENST00000474112.5:n.3137G>C | ||
| ENST00000484332.1:c.2149G>C | ENSP00000428277.1:p.Val717Leu | |
| ENST00000487717.5:c.2584G>C | ENSP00000420234.1:p.Val862Leu | |
| ENST00000522345.1:c.97G>C | ENSP00000428067.1:p.Val33Leu | |
| ENST00000538065.5:c.2584G>C | ENSP00000439585.1:p.Val862Leu | |
| NM_000333.3:c.2584G>C | NP_000324.1:p.Val862Leu | |
| NM_001128149.2:c.2149G>C | NP_001121621.2:p.Val717Leu | |
| NM_001177387.1:c.2584G>C | NP_001170858.1:p.Val862Leu | |
| NM_000333.4:c.2584G>C | NP_000324.1:p.Val862Leu | |
| NM_001128149.3:c.2149G>C | NP_001121621.2:p.Val717Leu | |
| NM_001377405.1:c.2584G>C MANE Select | NP_001364334.1:p.Val862Leu | |
| NM_001377406.1:c.2584G>C | NP_001364335.1:p.Val862Leu |