Revel Score:
ENST00000288840 (MANE Select)
0.940
ENST00000338426
0.940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781113T>A , CM000677.2:g.66781113T>A | GRCh38 |
| NC_000015.9:g.67073451T>A , CM000677.1:g.67073451T>A | GRCh37 |
| NC_000015.8:g.64860505T>A | NCBI36 |
| NG_012244.1:g.83778T>A | |
| NG_012244.2:g.83778T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1069T>A MANE Select | ENSP00000288840.5:p.Phe357Ile | |
| ENST00000288840.9:c.1069T>A | ENSP00000288840.5:p.Phe357Ile | |
| ENST00000557916.5:c.1201T>A | ENSP00000452955.1:n.1201T>A | |
| ENST00000559931.5:c.373T>A | ENSP00000453446.1:n.373T>A | |
| NM_005585.4:c.1069T>A | NP_005576.3:p.Phe357Ile | |
| NR_027654.1:n.2124T>A | ||
| XM_011521561.1:c.286T>A | XP_011519863.1:p.Phe96Ile | |
| XR_931825.1:n.2468T>A | ||
| XM_011521561.2:c.286T>A | XP_011519863.1:p.Phe96Ile | |
| NM_005585.5:c.1069T>A MANE Select | NP_005576.3:p.Phe357Ile | |
| NR_027654.2:n.2224T>A |