Revel Score:
ENST00000241124
0.797
ENST00000400065
0.797
ENST00000400066
0.797
ENST00000356192
0.797
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00018825 (EAS)
Exomes Max Group AF
0.00021265 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20223362G>A , CM000675.2:g.20223362G>A | GRCh38 |
| NC_000013.10:g.20797501G>A , CM000675.1:g.20797501G>A | GRCh37 |
| NC_000013.9:g.19695501G>A | NCBI36 |
| NG_008323.1:g.14034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241124.11:c.119C>T | ENSP00000241124.6:p.Ala40Val | |
| ENST00000400066.8:c.119C>T | ENSP00000382939.3:p.Ala40Val | |
| ENST00000636852.1:c.119C>T | ENSP00000489698.1:p.Ala40Val | |
| ENST00000642251.1:c.119C>T | ENSP00000495437.1:p.Ala40Val | |
| ENST00000643121.1:c.119C>T | ENSP00000494468.1:p.Ala40Val | |
| ENST00000643211.1:c.119C>T | ENSP00000495841.1:p.Ala40Val | |
| ENST00000644236.1:c.119C>T | ENSP00000494122.1:p.Ala40Val | |
| ENST00000644283.1:c.119C>T | ENSP00000495320.1:p.Ala40Val | |
| ENST00000644667.1:c.119C>T | ENSP00000493621.1:p.Ala40Val | |
| ENST00000645654.1:c.119C>T | ENSP00000494720.1:p.Ala40Val | |
| ENST00000646108.1:c.119C>T | ENSP00000493512.1:p.Ala40Val | |
| ENST00000647029.1:c.119C>T MANE Select | ENSP00000493834.1:p.Ala40Val | |
| ENST00000647243.1:c.119C>T | ENSP00000494733.1:p.Ala40Val | |
| ENST00000241124.10:c.119C>T | ENSP00000241124.6:p.Ala40Val | |
| ENST00000356192.6:c.119C>T | ENSP00000348521.6:p.Ala40Val | |
| ENST00000400065.7:c.119C>T | ENSP00000382938.3:p.Ala40Val | |
| ENST00000400066.7:c.119C>T | ENSP00000382939.3:p.Ala40Val | |
| NM_001110219.2:c.119C>T | NP_001103689.1:p.Ala40Val | |
| NM_001110220.2:c.119C>T | NP_001103690.1:p.Ala40Val | |
| NM_001110221.2:c.119C>T | NP_001103691.1:p.Ala40Val | |
| NM_006783.4:c.119C>T | NP_006774.2:p.Ala40Val | |
| NM_001110219.3:c.119C>T MANE Select | NP_001103689.1:p.Ala40Val | |
| NM_001370090.1:c.119C>T | NP_001357019.1:p.Ala40Val | |
| NM_001370091.1:c.119C>T | NP_001357020.1:p.Ala40Val | |
| NM_001370092.1:c.119C>T | NP_001357021.1:p.Ala40Val | |
| NM_001110220.3:c.119C>T | NP_001103690.1:p.Ala40Val | |
| NM_001110221.3:c.119C>T | NP_001103691.1:p.Ala40Val | |
| NM_006783.5:c.119C>T | NP_006774.2:p.Ala40Val |