Revel Score:
ENST00000264734 (MANE Select)
0.782
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190410026C>G , CM000665.2:g.190410026C>G | GRCh38 |
| NC_000003.11:g.190127815C>G , CM000665.1:g.190127815C>G | GRCh37 |
| NC_000003.10:g.191610509C>G | NCBI36 |
| NG_008149.1:g.26975C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.698C>G MANE Select | ENSP00000264734.3:p.Thr233Arg | |
| ENST00000264734.2:c.908C>G | ENSP00000264734.2:p.Thr303Arg | |
| NM_006580.3:c.908C>G | NP_006571.1:p.Thr303Arg | |
| NM_001378492.1:c.698C>G | NP_001365421.1:p.Thr233Arg | |
| NM_001378493.1:c.698C>G | NP_001365422.1:p.Thr233Arg | |
| NM_006580.4:c.698C>G MANE Select | NP_006571.2:p.Thr233Arg |