Revel Score:
ENST00000320868 (MANE Select)
0.973
ENST00000397797
0.973
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176963T>C , CM000678.2:g.176963T>C | GRCh38 |
| NC_000016.9:g.226962T>C , CM000678.1:g.226962T>C | GRCh37 |
| NC_000016.8:g.166962T>C | NCBI36 |
| NG_000006.1:g.37826T>C | |
| NG_059186.1:g.5313T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.130T>C MANE Select | ENSP00000322421.5:p.Phe44Leu | |
| ENST00000397797.1:c.34T>C | ENSP00000380899.1:p.Phe12Leu | |
| ENST00000472694.1:n.266T>C | ||
| ENST00000487791.1:n.99T>C | ||
| NM_000558.4:c.130T>C | NP_000549.1:p.Phe44Leu | |
| NM_000558.5:c.130T>C MANE Select | NP_000549.1:p.Phe44Leu |