Revel Score:
ENST00000228280
0.618
ENST00000347404
0.618
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88545781T>G , CM000674.2:g.88545781T>G | GRCh38 |
| NC_000012.11:g.88939558T>G , CM000674.1:g.88939558T>G | GRCh37 |
| NC_000012.10:g.87463689T>G | NCBI36 |
| NG_012098.1:g.39681A>C | |
| NG_012098.2:g.39681A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347404.10:c.100A>C | ENSP00000054216.5:p.Thr34Pro | |
| ENST00000644744.1:c.100A>C MANE Select | ENSP00000495951.1:p.Thr34Pro | |
| ENST00000646633.1:c.*101A>C | ENSP00000494139.1:n.*101A>C | |
| ENST00000228280.9:c.100A>C | ENSP00000228280.5:p.Thr34Pro | |
| ENST00000347404.9:c.100A>C | ENSP00000054216.5:p.Thr34Pro | |
| ENST00000357116.4:c.-48+34483A>C | ENSP00000474021.1:n.-48+34483A>C | |
| ENST00000552044.1:c.-54A>C | ENSP00000475042.1:n.-54A>C | |
| NM_000899.4:c.100A>C | NP_000890.1:p.Thr34Pro | |
| NM_003994.5:c.100A>C | NP_003985.2:p.Thr34Pro | |
| NM_000899.5:c.100A>C MANE Select | NP_000890.1:p.Thr34Pro | |
| NM_003994.6:c.100A>C | NP_003985.2:p.Thr34Pro |