Revel Score:
ENST00000320767 (MANE Select)
0.779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160677485T>C , CM000665.2:g.160677485T>C | GRCh38 |
| NC_000003.11:g.160395273T>C , CM000665.1:g.160395273T>C | GRCh37 |
| NC_000003.10:g.161877967T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320767.4:c.139T>C MANE Select | ENSP00000323847.2:p.Phe47Leu | |
| ENST00000320767.3:c.139T>C | ENSP00000323847.2:p.Phe47Leu | |
| NM_025047.2:c.139T>C | NP_079323.1:p.Phe47Leu | |
| NM_025047.3:c.139T>C MANE Select | NP_079323.1:p.Phe47Leu |