Revel Score:
ENST00000262367 (MANE Select)
0.367
ENST00000543883
0.367
ENST00000382070
0.367
ENST00000323508
0.367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728059G>A , CM000678.2:g.3728059G>A | GRCh38 |
| NC_000016.9:g.3778060G>A , CM000678.1:g.3778060G>A | GRCh37 |
| NC_000016.8:g.3718061G>A | NCBI36 |
| NG_009873.1:g.157062C>T | |
| NG_009873.2:g.157655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6988C>T MANE Select | ENSP00000262367.5:p.Leu2330Phe | |
| ENST00000262367.9:c.6988C>T | ENSP00000262367.5:p.Leu2330Phe | |
| ENST00000382070.7:c.6874C>T | ENSP00000371502.3:p.Leu2292Phe | |
| NM_001079846.1:c.6874C>T | NP_001073315.1:p.Leu2292Phe | |
| NM_004380.2:c.6988C>T | NP_004371.2:p.Leu2330Phe | |
| XM_005255124.3:c.6943C>T | XP_005255181.1:p.Leu2315Phe | |
| XM_005255125.3:c.6571C>T | XP_005255182.1:p.Leu2191Phe | |
| XM_006720848.2:c.6727C>T | XP_006720911.1:p.Leu2243Phe | |
| XM_011522380.1:c.6934C>T | XP_011520682.1:p.Leu2312Phe | |
| XM_011522381.1:c.6235C>T | XP_011520683.1:p.Leu2079Phe | |
| XM_005255124.4:c.6943C>T | XP_005255181.1:p.Leu2315Phe | |
| XM_005255125.4:c.6571C>T | XP_005255182.1:p.Leu2191Phe | |
| XM_006720848.3:c.6727C>T | XP_006720911.1:p.Leu2243Phe | |
| XM_011522381.2:c.6235C>T | XP_011520683.1:p.Leu2079Phe | |
| XM_017022944.1:c.6982C>T | XP_016878433.1:p.Leu2328Phe | |
| NM_004380.3:c.6988C>T MANE Select | NP_004371.2:p.Leu2330Phe |