Revel Score:
ENST00000366560 (MANE Select)
0.893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241502561T>A , CM000663.2:g.241502561T>A | GRCh38 |
| NC_000001.10:g.241665861T>A , CM000663.1:g.241665861T>A | GRCh37 |
| NC_000001.9:g.239732484T>A | NCBI36 |
| NG_012338.1:g.22194A>T , LRG_504:g.22194A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1621A>T | ||
| ENST00000682162.1:c.1147A>T | ENSP00000508203.1:n.1147A>T | |
| ENST00000682567.1:n.2666A>T | ||
| ENST00000683521.1:c.1118A>T | ENSP00000506864.1:p.Asn373Ile | |
| ENST00000684161.1:n.2333A>T | ||
| ENST00000684483.1:c.*514A>T | ENSP00000507894.1:n.*514A>T | |
| ENST00000366560.4:c.1118A>T MANE Select | ENSP00000355518.4:p.Asn373Ile | |
| ENST00000366560.3:c.1118A>T | ENSP00000355518.3:p.Asn373Ile | |
| NM_000143.3:c.1118A>T , LRG_504t1:c.1118A>T | NP_000134.2:p.Asn373Ile | |
| XM_011544132.1:c.890A>T | XP_011542434.1:p.Asn297Ile | |
| XM_011544132.2:c.890A>T | XP_011542434.1:p.Asn297Ile | |
| NM_000143.4:c.1118A>T MANE Select | NP_000134.2:p.Asn373Ile |