Revel Score:
ENST00000366560 (MANE Select)
0.776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241506087C>T , CM000663.2:g.241506087C>T | GRCh38 |
| NC_000001.10:g.241669387C>T , CM000663.1:g.241669387C>T | GRCh37 |
| NC_000001.9:g.239736010C>T | NCBI36 |
| NG_012338.1:g.18668G>A , LRG_504:g.18668G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1323G>A | ||
| ENST00000682162.1:c.849G>A | ENSP00000508203.1:n.849G>A | |
| ENST00000682567.1:n.897G>A | ||
| ENST00000683521.1:c.820G>A | ENSP00000506864.1:p.Ala274Thr | |
| ENST00000684161.1:n.2035G>A | ||
| ENST00000684483.1:c.*216G>A | ENSP00000507894.1:n.*216G>A | |
| ENST00000366560.4:c.820G>A MANE Select | ENSP00000355518.4:p.Ala274Thr | |
| ENST00000366560.3:c.820G>A | ENSP00000355518.3:p.Ala274Thr | |
| NM_000143.3:c.820G>A , LRG_504t1:c.820G>A | NP_000134.2:p.Ala274Thr | |
| XM_011544132.1:c.592G>A | XP_011542434.1:p.Ala198Thr | |
| XM_011544132.2:c.592G>A | XP_011542434.1:p.Ala198Thr | |
| NM_000143.4:c.820G>A MANE Select | NP_000134.2:p.Ala274Thr |