Revel Score:
ENST00000303575 (MANE Select)
0.514
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75134976C>G , CM000676.2:g.75134976C>G | GRCh38 |
| NC_000014.8:g.75601679C>G , CM000676.1:g.75601679C>G | GRCh37 |
| NC_000014.7:g.74671432C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303575.9:c.569G>C MANE Select | ENSP00000303145.4:p.Ser190Thr | |
| ENST00000303575.8:c.569G>C | ENSP00000303145.4:p.Ser190Thr | |
| ENST00000555036.1:n.352G>C | ||
| ENST00000555873.1:c.*205G>C | ENSP00000450726.1:n.*205G>C | |
| ENST00000556969.5:n.276G>C | ||
| ENST00000557670.5:n.297G>C | ||
| NM_006827.5:c.569G>C | NP_006818.3:p.Ser190Thr | |
| NM_006827.6:c.569G>C MANE Select | NP_006818.3:p.Ser190Thr |