Revel Score:
ENST00000256447 (MANE Select)
0.032
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184176T>A , CM000667.2:g.67184176T>A | GRCh38 |
| NC_000005.9:g.66480004T>A , CM000667.1:g.66480004T>A | GRCh37 |
| NC_000005.8:g.66515760T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256447.5:c.667A>T MANE Select | ENSP00000256447.4:p.Ile223Phe | |
| NM_005582.2:c.667A>T | NP_005573.2:p.Ile223Phe | |
| XM_005248504.3:c.628A>T | XP_005248561.1:p.Ile210Phe | |
| XM_005248504.4:c.628A>T | XP_005248561.1:p.Ile210Phe | |
| NM_005582.3:c.667A>T MANE Select | NP_005573.2:p.Ile223Phe |