Revel Score:
ENST00000236147 (MANE Select)
0.619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169703414G>A , CM000663.2:g.169703414G>A | GRCh38 |
| NC_000001.10:g.169672555G>A , CM000663.1:g.169672555G>A | GRCh37 |
| NC_000001.9:g.167939179G>A | NCBI36 |
| NG_016132.1:g.13289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236147.6:c.793C>T (SELL) MANE Select | ENSP00000236147.5:p.Pro265Ser | |
| ENST00000650983.1:c.832C>T (SELL) | ENSP00000498227.1:p.Pro278Ser | |
| ENST00000236147.4:c.832C>T (SELL) | ENSP00000236147.4:p.Pro278Ser | |
| ENST00000460650.5:n.213C>T (SELL) | ||
| ENST00000463108.5:n.993C>T (SELL) | ||
| ENST00000479657.5:n.604C>T (SELL) | ||
| ENST00000498289.5:n.851+19482G>A (FIRRM) | ||
| NM_000655.4:c.832C>T (SELL) | NP_000646.2:p.Pro278Ser | |
| NR_029467.1:n.761C>T (SELL) | ||
| NM_000655.5:c.793C>T (SELL) MANE Select | NP_000646.3:p.Pro265Ser | |
| NR_029467.2:n.762C>T (SELL) |