Revel Score:
ENST00000236147 (MANE Select)
0.313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169707343A>T , CM000663.2:g.169707343A>T | GRCh38 |
| NC_000001.10:g.169676484A>T , CM000663.1:g.169676484A>T | GRCh37 |
| NC_000001.9:g.167943108A>T | NCBI36 |
| NG_016132.1:g.9360T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236147.6:c.579T>A (SELL) MANE Select | ENSP00000236147.5:p.Phe193Leu | |
| ENST00000650983.1:c.618T>A (SELL) | ENSP00000498227.1:p.Phe206Leu | |
| ENST00000236147.4:c.618T>A (SELL) | ENSP00000236147.4:p.Phe206Leu | |
| ENST00000463108.5:n.779T>A (SELL) | ||
| ENST00000466340.1:n.591T>A (SELL) | ||
| ENST00000479657.5:n.331T>A (SELL) | ||
| ENST00000498289.5:n.851+23411A>T (FIRRM) | ||
| NM_000655.4:c.618T>A (SELL) | NP_000646.2:p.Phe206Leu | |
| NR_029467.1:n.547T>A (SELL) | ||
| NM_000655.5:c.579T>A (SELL) MANE Select | NP_000646.3:p.Phe193Leu | |
| NR_029467.2:n.548T>A (SELL) |