ClinVar Variation:
dbSNP:
Revel Score:
ENST00000252242 (MANE Select)
0.926
ENST00000456000
0.926
ENST00000549420
0.926
ENST00000551275
0.926
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519774G>A , CM000674.2:g.52519774G>A | GRCh38 |
| NC_000012.11:g.52913558G>A , CM000674.1:g.52913558G>A | GRCh37 |
| NC_000012.10:g.51199825G>A | NCBI36 |
| NG_008297.1:g.5686C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.523C>T MANE Select | ENSP00000252242.4:p.Leu175Phe | |
| ENST00000252242.8:c.523C>T | ENSP00000252242.4:p.Leu175Phe | |
| ENST00000549420.1:c.193C>T | ENSP00000447209.1:p.Leu65Phe | |
| ENST00000551275.1:c.418C>T | ENSP00000448041.1:p.Leu140Phe | |
| ENST00000552629.5:n.621C>T | ||
| NM_000424.3:c.523C>T | NP_000415.2:p.Leu175Phe | |
| NM_000424.4:c.523C>T MANE Select | NP_000415.2:p.Leu175Phe |