Revel Score:
ENST00000254810 (MANE Select)
0.587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75778937A>T , CM000679.2:g.75778937A>T | GRCh38 |
| NC_000017.10:g.73775018A>T , CM000679.1:g.73775018A>T | GRCh37 |
| NC_000017.9:g.71286613A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254810.8:c.155T>A MANE Select | ENSP00000254810.3:p.Ile52Asn | |
| ENST00000586270.5:c.155T>A | ENSP00000465403.1:p.Ile52Asn | |
| ENST00000586518.1:n.836T>A | ||
| ENST00000586607.5:c.155T>A | ENSP00000466020.1:p.Ile52Asn | |
| ENST00000587171.1:c.155T>A | ENSP00000468484.1:p.Ile52Asn | |
| ENST00000587560.5:c.155T>A | ENSP00000468714.1:p.Ile52Asn | |
| ENST00000589417.1:n.371T>A | ||
| ENST00000589599.5:c.155T>A | ENSP00000465813.1:p.Ile52Asn | |
| ENST00000589949.1:n.358T>A | ||
| ENST00000591890.5:c.155T>A | ENSP00000466663.1:p.Ile52Asn | |
| ENST00000592643.5:c.155T>A | ENSP00000467165.1:p.Ile52Asn | |
| ENST00000593254.1:n.118-55T>A | ||
| NM_005324.4:c.155T>A | NP_005315.1:p.Ile52Asn | |
| NM_005324.5:c.155T>A MANE Select | NP_005315.1:p.Ile52Asn |