Revel Score:
ENST00000366560 (MANE Select)
0.921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241502469C>T , CM000663.2:g.241502469C>T | GRCh38 |
| NC_000001.10:g.241665769C>T , CM000663.1:g.241665769C>T | GRCh37 |
| NC_000001.9:g.239732392C>T | NCBI36 |
| NG_012338.1:g.22286G>A , LRG_504:g.22286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1713G>A | ||
| ENST00000682162.1:c.1239G>A | ENSP00000508203.1:n.1239G>A | |
| ENST00000682567.1:n.2758G>A | ||
| ENST00000683521.1:c.1210G>A | ENSP00000506864.1:p.Glu404Lys | |
| ENST00000684161.1:n.2425G>A | ||
| ENST00000684483.1:c.*606G>A | ENSP00000507894.1:n.*606G>A | |
| ENST00000366560.4:c.1210G>A MANE Select | ENSP00000355518.4:p.Glu404Lys | |
| ENST00000366560.3:c.1210G>A | ENSP00000355518.3:p.Glu404Lys | |
| NM_000143.3:c.1210G>A , LRG_504t1:c.1210G>A | NP_000134.2:p.Glu404Lys | |
| XM_011544132.1:c.982G>A | XP_011542434.1:p.Glu328Lys | |
| XM_011544132.2:c.982G>A | XP_011542434.1:p.Glu328Lys | |
| NM_000143.4:c.1210G>A MANE Select | NP_000134.2:p.Glu404Lys |