Revel Score:
ENST00000443478
0.594
ENST00000347132 (MANE Select)
0.946
ENST00000509682
0.946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40819926G>A , CM000663.2:g.40819926G>A | GRCh38 |
| NC_000001.10:g.41285598G>A , CM000663.1:g.41285598G>A | GRCh37 |
| NC_000001.9:g.41058185G>A | NCBI36 |
| NG_008139.1:g.40915G>A | |
| NG_008139.2:g.40915G>A | |
| NG_008139.3:g.41140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.886G>A MANE Select | ENSP00000262916.6:p.Gly296Ser | |
| ENST00000347132.9:c.886G>A | ENSP00000262916.6:p.Gly296Ser | |
| ENST00000443478.3:c.572G>A | ||
| ENST00000506017.1:n.205G>A | ||
| ENST00000509682.6:c.886G>A | ENSP00000423756.2:p.Gly296Ser | |
| NM_004700.3:c.886G>A | NP_004691.2:p.Gly296Ser | |
| NM_172163.2:c.886G>A | NP_751895.1:p.Gly296Ser | |
| XM_011542417.1:c.886G>A | XP_011540719.1:p.Gly296Ser | |
| XM_011542418.1:c.886G>A | XP_011540720.1:p.Gly296Ser | |
| XM_011542419.1:c.886G>A | XP_011540721.1:p.Gly296Ser | |
| XM_011542420.1:c.886G>A | XP_011540722.1:p.Gly296Ser | |
| XR_946798.1:n.892G>A | ||
| XR_946799.1:n.892G>A | ||
| XR_946800.1:n.892G>A | ||
| XM_017002792.1:c.-132G>A | XP_016858281.1:n.-132G>A | |
| NM_004700.4:c.886G>A MANE Select | NP_004691.2:p.Gly296Ser | |
| NM_172163.3:c.886G>A | NP_751895.1:p.Gly296Ser |