Revel Score:
ENST00000299138 (MANE Select)
0.679
ENST00000541330
0.679
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46671766T>C , CM000678.2:g.46671766T>C | GRCh38 |
| NC_000016.9:g.46705678T>C , CM000678.1:g.46705678T>C | GRCh37 |
| NC_000016.8:g.45263179T>C | NCBI36 |
| NG_029970.1:g.22467A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299138.12:c.1463A>G MANE Select | ENSP00000299138.7:p.Gln488Arg | |
| ENST00000647959.1:c.*1526A>G | ENSP00000497702.1:n.*1526A>G | |
| ENST00000299138.11:c.1463A>G | ENSP00000299138.7:p.Gln488Arg | |
| ENST00000568784.6:c.*2133A>G | ENSP00000456274.2:n.*2133A>G | |
| NM_018206.4:c.1463A>G | NP_060676.2:p.Gln488Arg | |
| XM_005256045.2:c.1262A>G | XP_005256102.1:p.Gln421Arg | |
| XM_011523227.1:c.1376A>G | XP_011521529.1:p.Gln459Arg | |
| NM_018206.5:c.1463A>G | NP_060676.2:p.Gln488Arg | |
| XM_005256045.3:c.1262A>G | XP_005256102.1:p.Gln421Arg | |
| XM_011523227.3:c.1376A>G | XP_011521529.1:p.Gln459Arg | |
| NM_018206.6:c.1463A>G MANE Select | NP_060676.2:p.Gln488Arg |