Revel Score:
ENST00000299314 (MANE Select)
0.868
ENST00000549940
0.868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770183A>T , CM000674.2:g.101770183A>T | GRCh38 |
| NC_000012.11:g.102163961A>T , CM000674.1:g.102163961A>T | GRCh37 |
| NC_000012.10:g.100688092A>T | NCBI36 |
| NG_021243.1:g.65685T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1122T>A MANE Select | ENSP00000299314.7:p.Phe374Leu | |
| ENST00000299314.11:c.1122T>A | ENSP00000299314.7:p.Phe374Leu | |
| ENST00000549940.5:c.1122T>A | ENSP00000449150.1:p.Phe374Leu | |
| NM_024312.4:c.1122T>A | NP_077288.2:p.Phe374Leu | |
| XM_006719593.2:c.1122T>A | XP_006719656.1:p.Phe374Leu | |
| XM_011538731.1:c.1041T>A | XP_011537033.1:p.Phe347Leu | |
| XM_006719593.3:c.1122T>A | XP_006719656.1:p.Phe374Leu | |
| XM_011538731.2:c.1041T>A | XP_011537033.1:p.Phe347Leu | |
| XM_017019961.1:c.906T>A | XP_016875450.1:p.Phe302Leu | |
| XM_017019962.2:c.-106T>A | XP_016875451.1:n.-106T>A | |
| NM_024312.5:c.1122T>A MANE Select | NP_077288.2:p.Phe374Leu |