Revel Score:
ENST00000297784 (MANE Select)
0.300
ENST00000340019
0.300
ENST00000396235
0.300
ENST00000537917
0.300
ENST00000542143
0.300
ENST00000396237
0.300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820864A>C , CM000671.2:g.72820864A>C | GRCh38 |
| NC_000009.11:g.75435780A>C , CM000671.1:g.75435780A>C | GRCh37 |
| NC_000009.10:g.74625600A>C | NCBI36 |
| NG_008213.1:g.304064A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1786A>C MANE Select | ENSP00000297784.6:p.Ser596Arg | |
| ENST00000644967.1:c.*226A>C | ENSP00000496159.1:n.*226A>C | |
| ENST00000645053.1:c.1258-6005A>C | ENSP00000493838.1:n.1258-6005A>C | |
| ENST00000645208.2:c.1786A>C | ENSP00000494684.1:p.Ser596Arg | |
| ENST00000645773.1:c.1660A>C | ENSP00000493698.1:p.Ser554Arg | |
| ENST00000645787.1:n.1929A>C | ||
| ENST00000646619.1:c.1348A>C | ENSP00000493726.1:p.Ser450Arg | |
| ENST00000651183.1:c.1348A>C | ENSP00000498723.1:p.Ser450Arg | |
| ENST00000297784.9:c.1786A>C | ENSP00000297784.5:p.Ser596Arg | |
| ENST00000340019.4:c.1786A>C | ENSP00000341433.3:p.Ser596Arg | |
| ENST00000469455.1:n.267A>C | ||
| ENST00000486417.5:n.684A>C | ||
| NM_138691.2:c.1786A>C | NP_619636.2:p.Ser596Arg | |
| XM_011518213.1:c.2374A>C | XP_011516515.1:p.Ser792Arg | |
| XM_017014256.1:c.1789A>C | XP_016869745.1:p.Ser597Arg | |
| NM_138691.3:c.1786A>C MANE Select | NP_619636.2:p.Ser596Arg |