Revel Score:
ENST00000264381 (MANE Select)
0.177
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830122T>G , CM000665.2:g.165830122T>G | GRCh38 |
| NC_000003.11:g.165547910T>G , CM000665.1:g.165547910T>G | GRCh37 |
| NC_000003.10:g.167030604T>G | NCBI36 |
| NG_009031.1:g.12344A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.912A>C MANE Select | ENSP00000264381.3:p.Glu304Asp | |
| ENST00000264381.7:c.912A>C | ENSP00000264381.3:p.Glu304Asp | |
| ENST00000479451.5:c.107+7192A>C | ENSP00000418325.1:n.107+7192A>C | |
| ENST00000482958.1:c.912A>C | ENSP00000419804.1:p.Glu304Asp | |
| ENST00000488954.1:c.107+7192A>C | ENSP00000418504.1:n.107+7192A>C | |
| ENST00000497011.5:c.912A>C | ENSP00000419505.1:p.Glu304Asp | |
| NM_000055.2:c.912A>C | NP_000046.1:p.Glu304Asp | |
| XM_005247685.1:c.1035A>C | XP_005247742.1:p.Glu345Asp | |
| NM_000055.3:c.912A>C | NP_000046.1:p.Glu304Asp | |
| NR_137635.1:n.159+7192A>C | ||
| NR_137636.1:n.1079A>C | ||
| NM_000055.4:c.912A>C MANE Select | NP_000046.1:p.Glu304Asp | |
| NR_137635.2:n.110+7192A>C | ||
| NR_137636.2:n.1030A>C |