Revel Score:
ENST00000379806
0.891
ENST00000545074
0.891
ENST00000540249
0.891
ENST00000422285 (MANE Select)
0.891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19355452C>T , CM000685.2:g.19355452C>T | GRCh38 |
| NC_000023.10:g.19373570C>T , CM000685.1:g.19373570C>T | GRCh37 |
| NC_000023.9:g.19283491C>T | NCBI36 |
| NG_016781.1:g.16560C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.728C>T | ENSP00000348062.6:p.Ala243Val | |
| ENST00000379805.4:c.*399C>T | ENSP00000369133.3:n.*399C>T | |
| ENST00000417819.6:c.791C>T | ENSP00000404616.2:p.Ala264Val | |
| ENST00000423505.6:c.821C>T | ENSP00000406473.2:p.Ala274Val | |
| ENST00000481733.2:n.502C>T | ||
| ENST00000696704.1:c.*39C>T | ENSP00000512823.1:n.*39C>T | |
| ENST00000696705.1:c.*162C>T | ENSP00000512824.1:n.*162C>T | |
| ENST00000422285.7:c.707C>T MANE Select | ENSP00000394382.2:p.Ala236Val | |
| ENST00000379806.9:c.821C>T | ENSP00000369134.5:p.Ala274Val | |
| ENST00000422285.6:c.707C>T | ENSP00000394382.2:p.Ala236Val | |
| ENST00000481733.1:n.135C>T | ||
| ENST00000540249.5:c.614C>T | ENSP00000440761.1:p.Ala205Val | |
| ENST00000545074.5:c.728C>T | ENSP00000438550.1:p.Ala243Val | |
| NM_000284.3:c.707C>T | NP_000275.1:p.Ala236Val | |
| NM_001173454.1:c.821C>T | NP_001166925.1:p.Ala274Val | |
| NM_001173455.1:c.728C>T | NP_001166926.1:p.Ala243Val | |
| NM_001173456.1:c.614C>T | NP_001166927.1:p.Ala205Val | |
| XM_011545531.1:c.842C>T | XP_011543833.1:p.Ala281Val | |
| XM_011545532.1:c.749C>T | XP_011543834.1:p.Ala250Val | |
| XM_017029574.2:c.728C>T | XP_016885063.1:p.Ala243Val | |
| NM_000284.4:c.707C>T MANE Select | NP_000275.1:p.Ala236Val | |
| NM_001173454.2:c.821C>T | NP_001166925.1:p.Ala274Val | |
| NM_001173455.2:c.728C>T | NP_001166926.1:p.Ala243Val | |
| NM_001173456.2:c.614C>T | NP_001166927.1:p.Ala205Val |