Revel Score:
ENST00000448838
0.043
ENST00000227868 (MANE Select)
0.043
gnomAD v4:
Joint Max Group AF
0.00011188 (AFR)
Exomes Max Group AF
0.00025237 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34966740C>G , CM000673.2:g.34966740C>G | GRCh38 |
| NC_000011.9:g.34988287C>G , CM000673.1:g.34988287C>G | GRCh37 |
| NC_000011.8:g.34944863C>G | NCBI36 |
| NG_013368.1:g.55611C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.562C>G | ENSP00000389404.3:p.Gln188Glu | |
| ENST00000227868.9:c.742C>G MANE Select | ENSP00000227868.4:p.Gln248Glu | |
| ENST00000227868.8:c.742C>G | ENSP00000227868.4:p.Gln248Glu | |
| ENST00000430469.6:c.343-17830C>G | ENSP00000415695.2:n.343-17830C>G | |
| ENST00000448838.7:c.697C>G | ENSP00000389404.2:p.Gln233Glu | |
| NM_001135024.1:c.697C>G | NP_001128496.1:p.Gln233Glu | |
| NM_001166158.1:c.343-17830C>G | NP_001159630.1:n.343-17830C>G | |
| NM_003477.2:c.742C>G | NP_003468.2:p.Gln248Glu | |
| XM_011520390.1:c.562C>G | XP_011518692.1:p.Gln188Glu | |
| NM_003477.3:c.742C>G MANE Select | NP_003468.2:p.Gln248Glu | |
| NM_001135024.2:c.562C>G | NP_001128496.2:p.Gln188Glu | |
| NM_001166158.2:c.343-17830C>G | NP_001159630.1:n.343-17830C>G |