Revel Score:
ENST00000290219 (MANE Select)
0.044
ENST00000381995
0.044
ENST00000405436
0.044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33426974C>A , CM000683.2:g.33426974C>A | GRCh38 |
| NC_000021.8:g.34799281C>A , CM000683.1:g.34799281C>A | GRCh37 |
| NC_000021.7:g.33721151C>A | NCBI36 |
| NG_007570.2:g.46983C>A , LRG_67:g.46983C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696724.1:c.494C>A | ENSP00000512835.1:p.Thr165Asn | |
| ENST00000290219.11:c.503C>A MANE Select | ENSP00000290219.5:p.Thr168Asn | |
| ENST00000290219.10:c.503C>A | ENSP00000290219.5:p.Thr168Asn | |
| ENST00000381995.5:c.560C>A | ENSP00000371425.1:p.Thr187Asn | |
| ENST00000405436.5:c.266C>A | ENSP00000385044.1:p.Thr89Asn | |
| ENST00000439213.5:c.*478C>A | ENSP00000407541.1:n.*478C>A | |
| ENST00000545369.2:c.*256C>A | ENSP00000442735.2:n.*256C>A | |
| NM_005534.3:c.503C>A , LRG_67t1:c.503C>A | NP_005525.2:p.Thr168Asn | |
| XM_005260969.2:c.560C>A | XP_005261026.1:p.Thr187Asn | |
| XM_011529553.1:c.578C>A | XP_011527855.1:p.Thr193Asn | |
| XM_011529554.1:c.509C>A | XP_011527856.1:p.Thr170Asn | |
| NM_001329128.1:c.560C>A | NP_001316057.1:p.Thr187Asn | |
| XM_011529554.2:c.509C>A | XP_011527856.1:p.Thr170Asn | |
| NM_001329128.2:c.560C>A | NP_001316057.1:p.Thr187Asn | |
| NM_005534.4:c.503C>A MANE Select | NP_005525.2:p.Thr168Asn |