Revel Score:
ENST00000268035
0.219
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98911384G>C , CM000677.2:g.98911384G>C | GRCh38 |
| NC_000015.9:g.99454613G>C , CM000677.1:g.99454613G>C | GRCh37 |
| NC_000015.8:g.97272136G>C | NCBI36 |
| NG_009492.1:g.266853G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.1532G>C | ENSP00000496919.1:p.Arg511Pro | |
| ENST00000650285.1:c.1532G>C MANE Select | ENSP00000497069.1:p.Arg511Pro | |
| ENST00000268035.10:c.1532G>C | ENSP00000268035.6:p.Arg511Pro | |
| ENST00000558762.5:c.1532G>C | ENSP00000453007.1:p.Arg511Pro | |
| ENST00000558898.1:c.623G>C | ENSP00000454115.1:p.Arg208Pro | |
| ENST00000559582.1:n.439G>C | ||
| ENST00000559925.5:n.1532G>C | ||
| NM_000875.4:c.1532G>C | NP_000866.1:p.Arg511Pro | |
| NM_001291858.1:c.1532G>C | NP_001278787.1:p.Arg511Pro | |
| XM_011521513.1:c.1595G>C | XP_011519815.1:p.Arg532Pro | |
| XM_011521514.1:c.1595G>C | XP_011519816.1:p.Arg532Pro | |
| XM_011521515.1:c.1595G>C | XP_011519817.1:p.Arg532Pro | |
| XM_011521516.1:c.623G>C | XP_011519818.1:p.Arg208Pro | |
| XM_011521517.1:c.197G>C | XP_011519819.1:p.Arg66Pro | |
| XM_011521516.2:c.623G>C | XP_011519818.1:p.Arg208Pro | |
| XM_011521517.2:c.197G>C | XP_011519819.1:p.Arg66Pro | |
| XM_017022136.1:c.1607G>C | XP_016877625.1:p.Arg536Pro | |
| XM_017022137.1:c.1607G>C | XP_016877626.1:p.Arg536Pro | |
| XM_017022138.1:c.1607G>C | XP_016877627.1:p.Arg536Pro | |
| XM_017022139.1:c.1169G>C | XP_016877628.1:p.Arg390Pro | |
| XM_024449913.1:c.623G>C | XP_024305681.1:p.Arg208Pro | |
| NM_000875.5:c.1532G>C MANE Select | NP_000866.1:p.Arg511Pro | |
| NM_001291858.2:c.1532G>C | NP_001278787.1:p.Arg511Pro |