Revel Score:
ENST00000354760 (MANE Select)
0.803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26625603T>C , CM000684.2:g.26625603T>C | GRCh38 |
| NC_000022.10:g.27021567T>C , CM000684.1:g.27021567T>C | GRCh37 |
| NC_000022.9:g.25351567T>C | NCBI36 |
| NG_009825.1:g.8640T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354760.4:c.281T>C MANE Select | ENSP00000346805.3:p.Phe94Ser | |
| ENST00000354760.3:c.281T>C | ENSP00000346805.3:p.Phe94Ser | |
| ENST00000466315.1:n.178T>C | ||
| NM_001886.2:c.281T>C | NP_001877.1:p.Phe94Ser | |
| XM_006724140.2:c.296T>C | XP_006724203.1:p.Phe99Ser | |
| XM_011529898.1:c.395T>C | XP_011528200.1:p.Phe132Ser | |
| XM_006724140.3:c.296T>C | XP_006724203.1:p.Phe99Ser | |
| XM_017028598.1:c.314T>C | XP_016884087.1:p.Phe105Ser | |
| NM_001886.3:c.281T>C MANE Select | NP_001877.1:p.Phe94Ser |