Revel Score:
ENST00000335295 (MANE Select)
0.879
ENST00000380315
0.879
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226743G>A , CM000673.2:g.5226743G>A | GRCh38 |
| NC_000011.9:g.5247973G>A , CM000673.1:g.5247973G>A | GRCh37 |
| NC_000011.8:g.5204549G>A | NCBI36 |
| NG_000007.3:g.70873C>T | |
| NG_059281.1:g.5329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.149C>T | ENSP00000494175.1:p.Ser50Phe | |
| ENST00000335295.4:c.149C>T MANE Select | ENSP00000333994.3:p.Ser50Phe | |
| ENST00000380315.2:c.149C>T | ENSP00000369671.2:p.Ser50Phe | |
| ENST00000475226.1:n.81C>T | ||
| ENST00000485743.1:n.200C>T | ||
| ENST00000633227.1:c.133C>T | ENSP00000488004.1:p.Pro45Ser | |
| NM_000518.4:c.149C>T | NP_000509.1:p.Ser50Phe | |
| NM_000518.5:c.149C>T MANE Select | NP_000509.1:p.Ser50Phe |