Revel Score:
ENST00000376087 (MANE Select)
0.193
ENST00000436985
0.193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27100139T>A , CM000672.2:g.27100139T>A | GRCh38 |
| NC_000010.10:g.27389068T>A , CM000672.1:g.27389068T>A | GRCh37 |
| NC_000010.9:g.27429074T>A | NCBI36 |
| NG_031973.2:g.5360A>T , LRG_605:g.5360A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376087.5:c.188A>T MANE Select | ENSP00000365255.4:p.Gln63Leu | |
| ENST00000436985.7:c.188A>T | ENSP00000405112.3:p.Gln63Leu | |
| ENST00000674697.1:c.29A>T | ENSP00000502724.1:p.Gln10Leu | |
| ENST00000675187.1:c.188A>T | ENSP00000502611.1:p.Gln63Leu | |
| ENST00000675846.1:c.160A>T | ||
| ENST00000676299.1:c.188A>T | ENSP00000502506.1:p.Gln63Leu | |
| ENST00000676361.1:c.32A>T | ENSP00000502704.1:p.Gln11Leu | |
| ENST00000676420.1:c.188A>T | ENSP00000502355.1:p.Gln63Leu | |
| ENST00000376087.4:c.188A>T | ENSP00000365255.4:p.Gln63Leu | |
| ENST00000436985.6:c.188A>T | ENSP00000405112.2:p.Gln63Leu | |
| NM_001256053.1:c.188A>T | NP_001242982.1:p.Gln63Leu | |
| NM_014915.2:c.188A>T , LRG_605t1:c.188A>T | NP_055730.2:p.Gln63Leu | |
| XM_006717423.2:c.188A>T | XP_006717486.1:p.Gln63Leu | |
| XM_006717424.2:c.188A>T | XP_006717487.1:p.Gln63Leu | |
| XM_006717425.2:c.188A>T | XP_006717488.1:p.Gln63Leu | |
| XM_006717428.2:c.188A>T | XP_006717491.1:p.Gln63Leu | |
| XM_011519415.1:c.188A>T | XP_011517717.1:p.Gln63Leu | |
| XM_011519416.1:c.188A>T | XP_011517718.1:p.Gln63Leu | |
| XM_011519417.1:c.188A>T | XP_011517719.1:p.Gln63Leu | |
| XM_011519418.1:c.188A>T | XP_011517720.1:p.Gln63Leu | |
| XM_011519419.1:c.188A>T | XP_011517721.1:p.Gln63Leu | |
| XM_011519420.1:c.188A>T | XP_011517722.1:p.Gln63Leu | |
| XM_011519422.1:c.188A>T | XP_011517724.1:p.Gln63Leu | |
| XM_011519425.1:c.188A>T | XP_011517727.1:p.Gln63Leu | |
| XR_930483.1:n.360A>T | ||
| XR_930484.1:n.360A>T | ||
| XM_006717425.4:c.188A>T | XP_006717488.1:p.Gln63Leu | |
| XM_011519416.2:c.188A>T | XP_011517718.1:p.Gln63Leu | |
| XM_017015928.1:c.188A>T | XP_016871417.1:p.Gln63Leu | |
| XM_017015929.1:c.188A>T | XP_016871418.1:p.Gln63Leu | |
| XM_017015930.1:c.188A>T | XP_016871419.1:p.Gln63Leu | |
| XM_017015931.1:c.188A>T | XP_016871420.1:p.Gln63Leu | |
| XM_017015932.1:c.188A>T | XP_016871421.1:p.Gln63Leu | |
| XM_017015933.1:c.188A>T | XP_016871422.1:p.Gln63Leu | |
| XM_024447896.1:c.188A>T | XP_024303664.1:p.Gln63Leu | |
| NM_001256053.2:c.188A>T | NP_001242982.1:p.Gln63Leu | |
| NM_014915.3:c.188A>T MANE Select | NP_055730.2:p.Gln63Leu |