Revel Score:
ENST00000366560 (MANE Select)
0.933
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241517235T>G , CM000663.2:g.241517235T>G | GRCh38 |
| NC_000001.10:g.241680535T>G , CM000663.1:g.241680535T>G | GRCh37 |
| NC_000001.9:g.239747158T>G | NCBI36 |
| NG_012338.1:g.7520A>C , LRG_504:g.7520A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.717A>C | ||
| ENST00000682162.1:c.243A>C | ENSP00000508203.1:n.243A>C | |
| ENST00000682567.1:n.291A>C | ||
| ENST00000683521.1:c.214A>C | ENSP00000506864.1:p.Thr72Pro | |
| ENST00000684483.1:c.214A>C | ENSP00000507894.1:p.Thr72Pro | |
| ENST00000366560.4:c.214A>C MANE Select | ENSP00000355518.4:p.Thr72Pro | |
| ENST00000366560.3:c.214A>C | ENSP00000355518.3:p.Thr72Pro | |
| ENST00000493477.1:n.327A>C | ||
| NM_000143.3:c.214A>C , LRG_504t1:c.214A>C | NP_000134.2:p.Thr72Pro | |
| XM_011544132.1:c.-15A>C | XP_011542434.1:n.-15A>C | |
| XM_011544132.2:c.-15A>C | XP_011542434.1:n.-15A>C | |
| NM_000143.4:c.214A>C MANE Select | NP_000134.2:p.Thr72Pro |