Revel Score:
ENST00000167586 (MANE Select)
0.534
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583245C>G , CM000679.2:g.41583245C>G | GRCh38 |
| NC_000017.10:g.39739497C>G , CM000679.1:g.39739497C>G | GRCh37 |
| NC_000017.9:g.36993023C>G | NCBI36 |
| NG_008624.1:g.8651G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1264G>C MANE Select | ENSP00000167586.6:p.Glu422Gln | |
| ENST00000167586.6:c.1264G>C | ENSP00000167586.6:p.Glu422Gln | |
| ENST00000441550.2:n.211G>C | ||
| NM_000526.4:c.1264G>C | NP_000517.2:p.Glu422Gln | |
| NM_000526.5:c.1264G>C MANE Select | NP_000517.3:p.Glu422Gln |