Revel Score:
ENST00000389857 (MANE Select)
0.162
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91338156T>G , CM000676.2:g.91338156T>G | GRCh38 |
| NC_000014.8:g.91804500T>G , CM000676.1:g.91804500T>G | GRCh37 |
| NC_000014.7:g.90874253T>G | NCBI36 |
| NG_033118.1:g.84689A>C | |
| NG_033118.2:g.84689A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.899A>C MANE Select | ENSP00000374507.6:p.Gln300Pro | |
| ENST00000389857.10:c.899A>C | ENSP00000374507.6:p.Gln300Pro | |
| ENST00000554051.1:n.376A>C | ||
| NM_001080414.3:c.899A>C | NP_001073883.2:p.Gln300Pro | |
| XM_005267691.3:c.899A>C | XP_005267748.1:p.Gln300Pro | |
| XM_011536796.1:c.791A>C | XP_011535098.1:p.Gln264Pro | |
| XR_429316.2:n.1027A>C | ||
| XR_943459.1:n.1027A>C | ||
| XM_005267691.5:c.899A>C | XP_005267748.1:p.Gln300Pro | |
| XM_011536796.2:c.791A>C | XP_011535098.1:p.Gln264Pro | |
| XM_017021335.2:c.899A>C | XP_016876824.1:p.Gln300Pro | |
| XM_017021337.2:c.899A>C | XP_016876826.1:p.Gln300Pro | |
| XR_429316.4:n.1025A>C | ||
| NM_001080414.4:c.899A>C MANE Select | NP_001073883.2:p.Gln300Pro |