Revel Score:
ENST00000396913
0.893
ENST00000263038 (MANE Select)
0.893
ENST00000396920
0.893
ENST00000453759
0.893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283713T>G , CM000672.2:g.13283713T>G | GRCh38 |
| NC_000010.10:g.13325713T>G , CM000672.1:g.13325713T>G | GRCh37 |
| NC_000010.9:g.13365719T>G | NCBI36 |
| NG_012862.1:g.21418A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.805A>C MANE Select | ENSP00000263038.4:p.Asn269His | |
| ENST00000263038.8:c.805A>C | ENSP00000263038.4:p.Asn269His | |
| ENST00000396913.6:c.505A>C | ENSP00000380121.2:p.Asn169His | |
| ENST00000396920.7:c.754A>C | ENSP00000380126.3:p.Asn252His | |
| ENST00000453759.6:c.505A>C | ENSP00000412525.2:p.Asn169His | |
| NM_001037537.1:c.505A>C | NP_001032626.1:p.Asn169His | |
| NM_006214.3:c.805A>C | NP_006205.1:p.Asn269His | |
| XM_005252469.2:c.586A>C | XP_005252526.1:p.Asn196His | |
| NM_001323080.1:c.505A>C | NP_001310009.1:p.Asn169His | |
| NM_001323082.1:c.811A>C | NP_001310011.1:p.Asn271His | |
| NM_001323083.1:c.541A>C | NP_001310012.1:p.Asn181His | |
| NM_001323084.1:c.511A>C | NP_001310013.1:p.Asn171His | |
| NM_006214.4:c.805A>C MANE Select | NP_006205.1:p.Asn269His | |
| NM_001037537.2:c.505A>C | NP_001032626.1:p.Asn169His | |
| NM_001323080.2:c.505A>C | NP_001310009.1:p.Asn169His | |
| NM_001323082.2:c.811A>C | NP_001310011.1:p.Asn271His | |
| NM_001323083.2:c.541A>C | NP_001310012.1:p.Asn181His | |
| NM_001323084.2:c.511A>C | NP_001310013.1:p.Asn171His |