Revel Score:
ENST00000396020
0.693
ENST00000245458 (MANE Select)
0.693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49586021T>A , CM000676.2:g.49586021T>A | GRCh38 |
| NC_000014.8:g.50052739T>A , CM000676.1:g.50052739T>A | GRCh37 |
| NC_000014.7:g.49122489T>A | NCBI36 |
| NG_050638.2:g.17690A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245458.11:c.91A>T MANE Select | ENSP00000245458.7:p.Ile31Phe | |
| ENST00000554075.2:c.91A>T | ENSP00000496485.1:p.Ile31Phe | |
| ENST00000556230.2:c.91A>T | ENSP00000495033.1:p.Ile31Phe | |
| ENST00000245458.10:c.91A>T | ENSP00000245458.6:p.Ile31Phe | |
| ENST00000396020.7:c.91A>T | ENSP00000379339.3:p.Ile31Phe | |
| ENST00000554075.1:n.103A>T | ||
| ENST00000556230.1:n.121A>T | ||
| ENST00000557111.5:c.82A>T | ENSP00000478117.1:p.Ile28Phe | |
| ENST00000557367.2:n.331A>T | ||
| ENST00000557519.1:n.70A>T | ||
| ENST00000611563.1:c.91A>T | ENSP00000479892.1:p.Ile31Phe | |
| NM_001030001.2:c.91A>T | NP_001025172.1:p.Ile31Phe | |
| NM_001032.4:c.91A>T | NP_001023.1:p.Ile31Phe | |
| NM_001030001.3:c.91A>T | NP_001025172.1:p.Ile31Phe | |
| NM_001351375.1:c.82A>T | NP_001338304.1:p.Ile28Phe | |
| NM_001030001.4:c.91A>T | NP_001025172.1:p.Ile31Phe | |
| NM_001032.5:c.91A>T MANE Select | NP_001023.1:p.Ile31Phe | |
| NM_001351375.2:c.82A>T | NP_001338304.1:p.Ile28Phe |