Revel Score:
ENST00000256474 (MANE Select)
0.483
ENST00000450183
0.483
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146571C>G , CM000665.2:g.10146571C>G | GRCh38 |
| NC_000003.11:g.10188255C>G , CM000665.1:g.10188255C>G | GRCh37 |
| NC_000003.10:g.10163255C>G | NCBI36 |
| NG_008212.3:g.9937C>G , LRG_322:g.9937C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*75C>G | ENSP00000512434.1:n.*75C>G | |
| ENST00000696143.1:c.600-3216C>G | ENSP00000512435.1:n.600-3216C>G | |
| ENST00000696153.1:c.398C>G | ENSP00000512444.1:p.Thr133Ser | |
| ENST00000256474.3:c.398C>G MANE Select | ENSP00000256474.3:p.Thr133Ser | |
| ENST00000256474.2:c.398C>G | ENSP00000256474.2:p.Thr133Ser | |
| ENST00000345392.2:c.341-3216C>G | ENSP00000344757.2:n.341-3216C>G | |
| ENST00000477538.1:n.534C>G | ||
| NM_000551.3:c.398C>G , LRG_322t1:c.398C>G | NP_000542.1:p.Thr133Ser | |
| NM_198156.2:c.341-3216C>G | NP_937799.1:n.341-3216C>G | |
| XM_011534078.1:c.*75C>G | XP_011532380.1:n.*75C>G | |
| NM_001354723.1:c.*18-3216C>G | NP_001341652.1:n.*18-3216C>G | |
| NM_000551.4:c.398C>G MANE Select | NP_000542.1:p.Thr133Ser | |
| NM_001354723.2:c.*18-3216C>G | NP_001341652.1:n.*18-3216C>G | |
| NM_198156.3:c.341-3216C>G | NP_937799.1:n.341-3216C>G |