Revel Score:
ENST00000266304 (MANE Select)
0.071
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41382145C>G , CM000684.2:g.41382145C>G | GRCh38 |
| NC_000022.10:g.41778149C>G , CM000684.1:g.41778149C>G | GRCh37 |
| NC_000022.9:g.40108095C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266304.9:c.101C>G MANE Select | ENSP00000266304.4:p.Ser34Cys | |
| ENST00000266304.8:c.101C>G | ENSP00000266304.4:p.Ser34Cys | |
| ENST00000406644.7:c.68-5206C>G | ENSP00000385256.3:n.68-5206C>G | |
| NM_001145398.2:c.68-5206C>G | NP_001138870.1:n.68-5206C>G | |
| NM_003216.3:c.101C>G | NP_003207.1:p.Ser34Cys | |
| NM_003216.4:c.101C>G MANE Select | NP_003207.1:p.Ser34Cys | |
| NM_001145398.3:c.68-5206C>G | NP_001138870.1:n.68-5206C>G |