Revel Score:
ENST00000373960 (MANE Select)
0.858
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421494A>T , CM000664.2:g.219421494A>T | GRCh38 |
| NC_000002.11:g.220286216A>T , CM000664.1:g.220286216A>T | GRCh37 |
| NC_000002.10:g.219994460A>T | NCBI36 |
| NG_008043.1:g.8118A>T , LRG_380:g.8118A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.652A>T | ||
| ENST00000683013.1:n.566A>T | ||
| ENST00000373960.4:c.1178A>T MANE Select | ENSP00000363071.3:p.Asn393Ile | |
| ENST00000373960.3:c.1178A>T | ENSP00000363071.3:p.Asn393Ile | |
| ENST00000477226.5:n.650A>T | ||
| ENST00000492726.1:n.573A>T | ||
| NM_001927.3:c.1178A>T , LRG_380t1:c.1178A>T | NP_001918.3:p.Asn393Ile | |
| NM_001927.4:c.1178A>T MANE Select | NP_001918.3:p.Asn393Ile | |
| NM_001382708.1:c.1175A>T | NP_001369637.1:p.Asn392Ile | |
| NM_001382709.1:c.746A>T | NP_001369638.1:p.Asn249Ile | |
| NM_001382710.1:c.1109A>T | NP_001369639.1:p.Asn370Ile | |
| NM_001382711.1:c.1157A>T | NP_001369640.1:p.Asn386Ile | |
| NM_001382712.1:c.1178A>T | NP_001369641.1:p.Asn393Ile | |
| NM_001382713.1:c.908A>T | NP_001369642.1:p.Asn303Ile |