Revel Score:
ENST00000379375 (MANE Select)
0.352
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12295966G>C , CM000668.2:g.12295966G>C | GRCh38 |
| NC_000006.11:g.12296199G>C , CM000668.1:g.12296199G>C | GRCh37 |
| NC_000006.10:g.12404185G>C | NCBI36 |
| NG_016196.1:g.10671G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379375.6:c.538G>C MANE Select | ENSP00000368683.5:p.Glu180Gln | |
| ENST00000379375.5:c.538G>C | ENSP00000368683.5:p.Glu180Gln | |
| NM_001168319.1:c.535G>C | NP_001161791.1:p.Glu179Gln | |
| NM_001955.4:c.538G>C | NP_001946.3:p.Glu180Gln | |
| XM_011514330.1:c.538G>C | XP_011512632.1:p.Glu180Gln | |
| XM_011514331.1:c.538G>C | XP_011512633.1:p.Glu180Gln | |
| XM_011514332.1:c.535G>C | XP_011512634.1:p.Glu179Gln | |
| XM_011514330.2:c.538G>C | XP_011512632.1:p.Glu180Gln | |
| XM_011514331.3:c.538G>C | XP_011512633.1:p.Glu180Gln | |
| XM_011514332.2:c.535G>C | XP_011512634.1:p.Glu179Gln | |
| XM_017010331.1:c.538G>C | XP_016865820.1:p.Glu180Gln | |
| NM_001955.5:c.538G>C MANE Select | NP_001946.3:p.Glu180Gln | |
| NM_001168319.2:c.535G>C | NP_001161791.1:p.Glu179Gln |