Revel Score:
ENST00000293217 (MANE Select)
0.172
ENST00000537812
0.172
ENST00000539791
0.172
ENST00000538781
0.172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75960252C>A , CM000679.2:g.75960252C>A | GRCh38 |
| NC_000017.10:g.73956333C>A , CM000679.1:g.73956333C>A | GRCh37 |
| NC_000017.9:g.71467928C>A | NCBI36 |
| NG_008190.1:g.24112G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301608.9:c.431-2686G>T | ENSP00000301608.4:n.431-2686G>T | |
| ENST00000293217.10:c.393G>T MANE Select | ENSP00000293217.4:p.Glu131Asp | |
| ENST00000293217.9:c.393G>T | ENSP00000293217.4:p.Glu131Asp | |
| ENST00000301608.8:c.431-2686G>T | ENSP00000301608.4:n.431-2686G>T | |
| ENST00000572047.5:c.567G>T | ENSP00000459936.1:n.567G>T | |
| ENST00000573078.5:c.554G>T | ENSP00000458325.1:p.Arg185Ile | |
| ENST00000588176.5:c.431-4305G>T | ENSP00000466210.1:n.431-4305G>T | |
| ENST00000589301.1:c.*228-2686G>T | ENSP00000468435.1:n.*228-2686G>T | |
| ENST00000591857.5:n.411G>T | ||
| NM_001185039.1:c.279G>T | NP_001171968.1:p.Glu93Asp | |
| NM_004035.6:c.393G>T | NP_004026.2:p.Glu131Asp | |
| NM_007292.5:c.431-2686G>T | NP_009223.2:n.431-2686G>T | |
| XM_011524868.1:c.189G>T | XP_011523170.1:p.Glu63Asp | |
| XM_011524869.1:c.23-2686G>T | XP_011523171.1:n.23-2686G>T | |
| XM_011524868.3:c.189G>T | XP_011523170.1:p.Glu63Asp | |
| XM_011524869.3:c.23-2686G>T | XP_011523171.1:n.23-2686G>T | |
| NM_004035.7:c.393G>T MANE Select | NP_004026.2:p.Glu131Asp | |
| NM_001185039.2:c.279G>T | NP_001171968.1:p.Glu93Asp | |
| NM_007292.6:c.431-2686G>T | NP_009223.2:n.431-2686G>T |