Revel Score:
ENST00000405271
0.913
ENST00000263735 (MANE Select)
0.913
ENST00000419334
0.913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47373820G>C , CM000664.2:g.47373820G>C | GRCh38 |
| NC_000002.11:g.47600959G>C , CM000664.1:g.47600959G>C | GRCh37 |
| NC_000002.10:g.47454463G>C | NCBI36 |
| NG_012352.2:g.33658G>C , LRG_215:g.33658G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.197G>C MANE Select | ENSP00000263735.4:p.Cys66Ser | |
| ENST00000263735.8:c.197G>C | ENSP00000263735.4:p.Cys66Ser | |
| ENST00000405271.5:c.281G>C | ENSP00000385476.1:p.Cys94Ser | |
| ENST00000419334.1:c.425G>C | ENSP00000389028.1:p.Cys142Ser | |
| ENST00000456133.5:c.281G>C | ENSP00000410675.1:p.Cys94Ser | |
| ENST00000474691.1:n.465G>C | ||
| ENST00000490733.1:n.46G>C | ||
| NM_002354.2:c.197G>C , LRG_215t1:c.197G>C | NP_002345.2:p.Cys66Ser | |
| NM_002354.3:c.197G>C MANE Select | NP_002345.2:p.Cys66Ser |