Revel Score:
ENST00000348639
0.365
ENST00000326828 (MANE Select)
0.365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78617110T>G , CM000677.2:g.78617110T>G | GRCh38 |
| NC_000015.9:g.78909452T>G , CM000677.1:g.78909452T>G | GRCh37 |
| NC_000015.8:g.76696507T>G | NCBI36 |
| NG_016143.1:g.9186A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.291A>C MANE Select | ENSP00000315602.5:p.Lys97Asn | |
| ENST00000326828.5:c.291A>C | ENSP00000315602.5:p.Lys97Asn | |
| ENST00000348639.7:c.291A>C | ENSP00000267951.4:p.Lys97Asn | |
| ENST00000559658.5:c.291A>C | ENSP00000452896.1:p.Lys97Asn | |
| NM_000743.4:c.291A>C | NP_000734.2:p.Lys97Asn | |
| NM_001166694.1:c.291A>C | NP_001160166.1:p.Lys97Asn | |
| NR_046313.1:n.792A>C | ||
| XM_006720382.1:c.90A>C | XP_006720445.1:p.Lys30Asn | |
| XM_011521173.1:c.210A>C | XP_011519475.1:p.Lys70Asn | |
| XM_006720382.3:c.90A>C | XP_006720445.1:p.Lys30Asn | |
| NM_000743.5:c.291A>C MANE Select | NP_000734.2:p.Lys97Asn | |
| NM_001166694.2:c.291A>C | NP_001160166.1:p.Lys97Asn | |
| NR_046313.2:n.493A>C |