Revel Score:
ENST00000264381 (MANE Select)
0.498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830236T>A , CM000665.2:g.165830236T>A | GRCh38 |
| NC_000003.11:g.165548024T>A , CM000665.1:g.165548024T>A | GRCh37 |
| NC_000003.10:g.167030718T>A | NCBI36 |
| NG_009031.1:g.12230A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.798A>T MANE Select | ENSP00000264381.3:p.Glu266Asp | |
| ENST00000264381.7:c.798A>T | ENSP00000264381.3:p.Glu266Asp | |
| ENST00000479451.5:c.107+7078A>T | ENSP00000418325.1:n.107+7078A>T | |
| ENST00000482958.1:c.798A>T | ENSP00000419804.1:p.Glu266Asp | |
| ENST00000488954.1:c.107+7078A>T | ENSP00000418504.1:n.107+7078A>T | |
| ENST00000497011.5:c.798A>T | ENSP00000419505.1:p.Glu266Asp | |
| NM_000055.2:c.798A>T | NP_000046.1:p.Glu266Asp | |
| XM_005247685.1:c.921A>T | XP_005247742.1:p.Glu307Asp | |
| NM_000055.3:c.798A>T | NP_000046.1:p.Glu266Asp | |
| NR_137635.1:n.159+7078A>T | ||
| NR_137636.1:n.965A>T | ||
| NM_000055.4:c.798A>T MANE Select | NP_000046.1:p.Glu266Asp | |
| NR_137635.2:n.110+7078A>T | ||
| NR_137636.2:n.916A>T |