Revel Score:
ENST00000455537 (MANE Select)
0.921
ENST00000286452
0.921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57567508A>C , CM000674.2:g.57567508A>C | GRCh38 |
| NC_000012.11:g.57961291A>C , CM000674.1:g.57961291A>C | GRCh37 |
| NC_000012.10:g.56247558A>C | NCBI36 |
| NG_008155.1:g.22445A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.604A>C MANE Select | ENSP00000408979.2:p.Ser202Arg | |
| ENST00000674619.1:c.604A>C | ENSP00000502270.1:p.Ser202Arg | |
| ENST00000676457.1:c.499A>C | ENSP00000501588.1:p.Ser167Arg | |
| ENST00000286452.5:c.337A>C | ENSP00000286452.5:p.Ser113Arg | |
| ENST00000455537.6:c.604A>C | ENSP00000408979.2:p.Ser202Arg | |
| NM_004984.2:c.604A>C | NP_004975.2:p.Ser202Arg | |
| NM_001354705.1:c.337A>C | NP_001341634.1:p.Ser113Arg | |
| NM_004984.3:c.604A>C | NP_004975.2:p.Ser202Arg | |
| XR_002957324.1:n.837A>C | ||
| NM_004984.4:c.604A>C MANE Select | NP_004975.2:p.Ser202Arg | |
| NM_001354705.2:c.337A>C | NP_001341634.1:p.Ser113Arg |