Revel Score:
ENST00000408890 (MANE Select)
0.025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.53036471T>C , CM000669.2:g.53036471T>C | GRCh38 |
| NC_000007.13:g.53104164T>C , CM000669.1:g.53104164T>C | GRCh37 |
| NC_000007.12:g.53071658T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408890.6:c.800T>C MANE Select | ENSP00000386133.3:p.Phe267Ser | |
| ENST00000408890.5:c.800T>C | ENSP00000386133.3:p.Phe267Ser | |
| NM_182595.3:c.800T>C | NP_872401.3:p.Phe267Ser | |
| NM_182595.4:c.800T>C MANE Select | NP_872401.3:p.Phe267Ser |