Revel Score:
ENST00000497571 (MANE Select)
0.204
ENST00000542957
0.204
ENST00000469435
0.204
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3781985T>A , CM000672.2:g.3781985T>A | GRCh38 |
| NC_000010.10:g.3824177T>A , CM000672.1:g.3824177T>A | GRCh37 |
| NC_000010.9:g.3814177T>A | NCBI36 |
| NG_012277.1:g.8297A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000497571.6:c.332A>T MANE Select | ENSP00000419923.1:p.Glu111Val | |
| ENST00000173785.4:n.67A>T | ||
| ENST00000380946.3:n.567A>T | ||
| ENST00000469435.1:c.332A>T | ENSP00000419079.1:p.Glu111Val | |
| ENST00000497571.5:c.332A>T | ENSP00000419923.1:p.Glu111Val | |
| ENST00000542957.1:c.332A>T | ENSP00000445301.1:p.Glu111Val | |
| NM_001160124.1:c.332A>T | NP_001153596.1:p.Glu111Val | |
| NM_001160125.1:c.332A>T | NP_001153597.1:p.Glu111Val | |
| NM_001300.5:c.332A>T | NP_001291.3:p.Glu111Val | |
| NR_027653.1:n.599A>T | ||
| NM_001300.6:c.332A>T MANE Select | NP_001291.3:p.Glu111Val | |
| NM_001160124.2:c.332A>T | NP_001153596.1:p.Glu111Val | |
| NR_027653.2:n.527A>T | ||
| NM_001160125.2:c.332A>T | NP_001153597.1:p.Glu111Val |