Revel Score:
ENST00000262367 (MANE Select)
0.371
ENST00000543883
0.371
ENST00000382070
0.371
ENST00000323508
0.371
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728059G>C , CM000678.2:g.3728059G>C | GRCh38 |
| NC_000016.9:g.3778060G>C , CM000678.1:g.3778060G>C | GRCh37 |
| NC_000016.8:g.3718061G>C | NCBI36 |
| NG_009873.1:g.157062C>G | |
| NG_009873.2:g.157655C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6988C>G MANE Select | ENSP00000262367.5:p.Leu2330Val | |
| ENST00000262367.9:c.6988C>G | ENSP00000262367.5:p.Leu2330Val | |
| ENST00000382070.7:c.6874C>G | ENSP00000371502.3:p.Leu2292Val | |
| NM_001079846.1:c.6874C>G | NP_001073315.1:p.Leu2292Val | |
| NM_004380.2:c.6988C>G | NP_004371.2:p.Leu2330Val | |
| XM_005255124.3:c.6943C>G | XP_005255181.1:p.Leu2315Val | |
| XM_005255125.3:c.6571C>G | XP_005255182.1:p.Leu2191Val | |
| XM_006720848.2:c.6727C>G | XP_006720911.1:p.Leu2243Val | |
| XM_011522380.1:c.6934C>G | XP_011520682.1:p.Leu2312Val | |
| XM_011522381.1:c.6235C>G | XP_011520683.1:p.Leu2079Val | |
| XM_005255124.4:c.6943C>G | XP_005255181.1:p.Leu2315Val | |
| XM_005255125.4:c.6571C>G | XP_005255182.1:p.Leu2191Val | |
| XM_006720848.3:c.6727C>G | XP_006720911.1:p.Leu2243Val | |
| XM_011522381.2:c.6235C>G | XP_011520683.1:p.Leu2079Val | |
| XM_017022944.1:c.6982C>G | XP_016878433.1:p.Leu2328Val | |
| NM_004380.3:c.6988C>G MANE Select | NP_004371.2:p.Leu2330Val |