Revel Score:
ENST00000498907 (MANE Select)
0.142
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302164T>A , CM000681.2:g.33302164T>A | GRCh38 |
| NC_000019.9:g.33793070T>A , CM000681.1:g.33793070T>A | GRCh37 |
| NC_000019.8:g.38484910T>A | NCBI36 |
| NG_012022.1:g.5361A>T , LRG_456:g.5361A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.251A>T MANE Select | ENSP00000427514.1:p.His84Leu | |
| ENST00000498907.2:c.251A>T | ENSP00000427514.1:p.His84Leu | |
| NM_001285829.1:c.-107A>T | NP_001272758.1:n.-107A>T | |
| NM_001287424.1:c.356A>T | NP_001274353.1:p.His119Leu | |
| NM_001287435.1:c.209A>T | NP_001274364.1:p.His70Leu | |
| NM_004364.4:c.251A>T | NP_004355.2:p.His84Leu | |
| NM_001287424.2:c.356A>T | NP_001274353.1:p.His119Leu | |
| NM_004364.5:c.251A>T MANE Select | NP_004355.2:p.His84Leu | |
| NM_001285829.2:c.-107A>T | NP_001272758.1:n.-107A>T | |
| NM_001287435.2:c.209A>T | NP_001274364.1:p.His70Leu |