Revel Score:
ENST00000336232 (MANE Select)
0.076
ENST00000540631
0.076
ENST00000311438
0.076
ENST00000430500
0.076
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63014899A>T , CM000673.2:g.63014899A>T | GRCh38 |
| NC_000011.9:g.62782371A>T , CM000673.1:g.62782371A>T | GRCh37 |
| NC_000011.8:g.62538947A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336232.7:c.60T>A MANE Select | ENSP00000337335.2:p.His20Gln | |
| ENST00000311438.12:c.60T>A | ENSP00000311463.8:p.His20Gln | |
| ENST00000336232.6:c.60T>A | ENSP00000337335.2:p.His20Gln | |
| ENST00000430500.6:c.60T>A | ENSP00000398548.2:p.His20Gln | |
| ENST00000535878.5:c.-37+830T>A | ENSP00000443368.1:n.-37+830T>A | |
| ENST00000544707.1:n.196T>A | ||
| ENST00000545207.5:c.-25-189T>A | ENSP00000441658.1:n.-25-189T>A | |
| NM_001184732.1:c.60T>A | NP_001171661.1:p.His20Gln | |
| NM_001184733.1:c.-25-189T>A | NP_001171662.1:n.-25-189T>A | |
| NM_001184736.1:c.-37+830T>A | NP_001171665.1:n.-37+830T>A | |
| NM_004254.3:c.60T>A | NP_004245.2:p.His20Gln | |
| NM_004254.4:c.60T>A MANE Select | NP_004245.2:p.His20Gln | |
| NM_001184732.2:c.60T>A | NP_001171661.1:p.His20Gln | |
| NM_001184733.2:c.-25-189T>A | NP_001171662.1:n.-25-189T>A | |
| NM_001184736.2:c.-37+830T>A | NP_001171665.1:n.-37+830T>A |