Revel Score:
ENST00000358409
0.133
ENST00000359864 (MANE Select)
0.133
ENST00000397122
0.133
ENST00000544666
0.182
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3020652G>T , CM000674.2:g.3020652G>T | GRCh38 |
| NC_000012.11:g.3129818G>T , CM000674.1:g.3129818G>T | GRCh37 |
| NC_000012.10:g.3000079G>T | NCBI36 |
| NG_029958.1:g.66341G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358409.7:c.473G>T | ENSP00000351184.3:p.Gly158Val | |
| ENST00000359864.8:c.602G>T MANE Select | ENSP00000352926.3:p.Gly201Val | |
| ENST00000443986.3:c.*75G>T | ENSP00000411475.3:n.*75G>T | |
| ENST00000358409.6:c.473G>T | ENSP00000351184.2:p.Gly158Val | |
| ENST00000359864.6:c.602G>T | ENSP00000352926.2:p.Gly201Val | |
| ENST00000397122.6:c.215G>T | ENSP00000380311.2:p.Gly72Val | |
| ENST00000443986.2:c.*75G>T | ENSP00000411475.2:n.*75G>T | |
| ENST00000544666.1:c.369G>T | ||
| NM_003213.3:c.602G>T | NP_003204.2:p.Gly201Val | |
| NM_201441.2:c.473G>T | NP_958849.1:p.Gly158Val | |
| NM_201443.2:c.215G>T | NP_958851.1:p.Gly72Val | |
| NM_003213.4:c.602G>T MANE Select | NP_003204.2:p.Gly201Val | |
| NM_201441.3:c.473G>T | NP_958849.1:p.Gly158Val | |
| NM_201443.3:c.215G>T | NP_958851.1:p.Gly72Val |