Revel Score:
ENST00000260630
0.925
ENST00000407341
0.925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070951C>G , CM000664.2:g.38070951C>G | GRCh38 |
| NC_000002.11:g.38298094C>G , CM000664.1:g.38298094C>G | GRCh37 |
| NC_000002.10:g.38151598C>G | NCBI36 |
| NG_008386.2:g.10151G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1403G>C | ENSP00000478839.2:p.Arg468Thr | |
| ENST00000610745.5:c.1403G>C MANE Select | ENSP00000478561.1:p.Arg468Thr | |
| ENST00000494864.1:c.290G>C | ENSP00000479876.1:p.Arg97Thr | |
| ENST00000610745.4:c.1403G>C | ENSP00000478561.1:p.Arg468Thr | |
| ENST00000614273.1:c.1403G>C | ENSP00000483678.1:p.Arg468Thr | |
| NM_000104.3:c.1403G>C | NP_000095.2:p.Arg468Thr | |
| NM_000104.4:c.1403G>C MANE Select | NP_000095.2:p.Arg468Thr |