Revel Score:
ENST00000215567 (MANE Select)
0.596
ENST00000436007
0.596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14564841C>G , CM000681.2:g.14564841C>G | GRCh38 |
| NC_000019.9:g.14675653C>G , CM000681.1:g.14675653C>G | GRCh37 |
| NC_000019.8:g.14536653C>G | NCBI36 |
| NG_028336.1:g.40275C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215567.10:c.545C>G MANE Select | ENSP00000215567.4:p.Pro182Arg | |
| ENST00000596073.6:c.659C>G | ENSP00000472697.2:p.Pro220Arg | |
| ENST00000642961.1:n.682C>G | ||
| ENST00000215567.9:c.545C>G | ENSP00000215567.4:p.Pro182Arg | |
| ENST00000593637.5:n.716C>G | ||
| ENST00000593775.5:n.144C>G | ||
| ENST00000594545.5:c.80C>G | ENSP00000469343.1:p.Pro27Arg | |
| ENST00000596073.5:c.80C>G | ENSP00000472697.1:p.Pro27Arg | |
| ENST00000596953.5:n.601C>G | ||
| ENST00000597607.5:n.585C>G | ||
| ENST00000598298.5:c.80C>G | ENSP00000471341.1:p.Pro27Arg | |
| ENST00000598333.5:c.*192C>G | ENSP00000473129.1:n.*192C>G | |
| ENST00000598987.5:c.*432C>G | ENSP00000472504.1:n.*432C>G | |
| ENST00000599101.5:n.148C>G | ||
| ENST00000600083.5:c.80C>G | ENSP00000472114.1:p.Pro27Arg | |
| ENST00000600395.5:n.286C>G | ||
| ENST00000601187.1:c.115C>G | ENSP00000472957.1:p.Leu39Val | |
| ENST00000601350.5:n.92C>G | ||
| ENST00000601461.1:n.629C>G | ||
| NM_138501.5:c.545C>G | NP_612510.1:p.Pro182Arg | |
| NR_038103.1:n.707C>G | ||
| NR_038104.1:n.740C>G | ||
| XM_006722945.1:c.644C>G | XP_006723008.1:p.Pro215Arg | |
| XM_006722947.1:c.590C>G | XP_006723010.1:p.Pro197Arg | |
| XM_011528442.1:c.608C>G | XP_011526744.1:p.Pro203Arg | |
| NM_001321170.1:c.590C>G | NP_001308099.1:p.Pro197Arg | |
| XM_006722945.2:c.644C>G | XP_006723008.1:p.Pro215Arg | |
| XM_011528442.2:c.608C>G | XP_011526744.1:p.Pro203Arg | |
| XM_024451790.1:c.644C>G | XP_024307558.1:p.Pro215Arg | |
| XM_024451791.1:c.644C>G | XP_024307559.1:p.Pro215Arg | |
| XM_024451792.1:c.608C>G | XP_024307560.1:p.Pro203Arg | |
| XM_024451793.1:c.608C>G | XP_024307561.1:p.Pro203Arg | |
| XM_024451794.1:c.590C>G | XP_024307562.1:p.Pro197Arg | |
| XM_024451795.1:c.590C>G | XP_024307563.1:p.Pro197Arg | |
| XM_024451796.1:c.545C>G | XP_024307564.1:p.Pro182Arg | |
| XM_024451797.1:c.545C>G | XP_024307565.1:p.Pro182Arg | |
| XM_024451798.1:c.80C>G | XP_024307566.1:p.Pro27Arg | |
| XM_024451799.1:c.80C>G | XP_024307567.1:p.Pro27Arg | |
| XM_024451800.1:c.80C>G | XP_024307568.1:p.Pro27Arg | |
| NM_138501.6:c.545C>G MANE Select | NP_612510.1:p.Pro182Arg |