Revel Score:
ENST00000543971
0.105
ENST00000536101
0.249
ENST00000335473 (MANE Select)
0.249
ENST00000407587
0.249
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022865 (MID)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00024059 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26026879C>T , CM000684.2:g.26026879C>T | GRCh38 |
| NC_000022.10:g.26422845C>T , CM000684.1:g.26422845C>T | GRCh37 |
| NC_000022.9:g.24752845C>T | NCBI36 |
| NG_046772.1:g.289736C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335473.12:c.6905C>T MANE Select | ENSP00000334563.8:p.Ser2302Leu | |
| ENST00000335473.11:c.6905C>T | ENSP00000334563.7:p.Ser2302Leu | |
| ENST00000407587.6:c.6908C>T | ENSP00000386096.2:p.Ser2303Leu | |
| ENST00000418374.6:n.5476C>T | ||
| ENST00000536101.5:c.6905C>T | ENSP00000441229.1:p.Ser2302Leu | |
| ENST00000539302.5:c.*4363C>T | ENSP00000437587.1:n.*4363C>T | |
| ENST00000543971.1:c.754C>T | ||
| NM_032608.5:c.6905C>T | NP_115997.5:p.Ser2302Leu | |
| XM_005261786.3:c.6908C>T | XP_005261843.1:p.Ser2303Leu | |
| XM_011530458.1:c.7034C>T | XP_011528760.1:p.Ser2345Leu | |
| XM_011530459.1:c.7034C>T | XP_011528761.1:p.Ser2345Leu | |
| XM_011530460.1:c.7034C>T | XP_011528762.1:p.Ser2345Leu | |
| XM_011530461.1:c.7034C>T | XP_011528763.1:p.Ser2345Leu | |
| XM_011530462.1:c.7034C>T | XP_011528764.1:p.Ser2345Leu | |
| XM_011530463.1:c.7034C>T | XP_011528765.1:p.Ser2345Leu | |
| XM_011530464.1:c.7031C>T | XP_011528766.1:p.Ser2344Leu | |
| XM_011530465.1:c.6551C>T | XP_011528767.1:p.Ser2184Leu | |
| NM_001318245.1:c.6908C>T | NP_001305174.1:p.Ser2303Leu | |
| NM_032608.6:c.6905C>T | NP_115997.5:p.Ser2302Leu | |
| XM_011530458.2:c.7034C>T | XP_011528760.1:p.Ser2345Leu | |
| XM_011530459.2:c.7034C>T | XP_011528761.1:p.Ser2345Leu | |
| XM_011530460.2:c.7034C>T | XP_011528762.1:p.Ser2345Leu | |
| XM_011530461.2:c.7034C>T | XP_011528763.1:p.Ser2345Leu | |
| XM_011530464.2:c.7031C>T | XP_011528766.1:p.Ser2344Leu | |
| XM_011530465.2:c.6551C>T | XP_011528767.1:p.Ser2184Leu | |
| XM_017029012.1:c.7034C>T | XP_016884501.1:p.Ser2345Leu | |
| XM_017029013.1:c.7034C>T | XP_016884502.1:p.Ser2345Leu | |
| XM_017029014.1:c.7031C>T | XP_016884503.1:p.Ser2344Leu | |
| XM_017029015.1:c.6902C>T | XP_016884504.1:p.Ser2301Leu | |
| XM_017029016.1:c.4370C>T | XP_016884505.1:p.Ser1457Leu | |
| XM_017029017.1:c.4367C>T | XP_016884506.1:p.Ser1456Leu | |
| NM_001318245.2:c.6908C>T | NP_001305174.1:p.Ser2303Leu | |
| NM_032608.7:c.6905C>T MANE Select | NP_115997.5:p.Ser2302Leu |