COSMIC:
COSM4986229 (not active)
Revel Score:
ENST00000254227 (MANE Select)
0.508
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.079003 (NFE)
Genomes Max Group AF
0.07666197 (NFE)
Exomes Max Group AF
0.07905107 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26913429C>G , CM000663.2:g.26913429C>G | GRCh38 |
| NC_000001.10:g.27239920C>G , CM000663.1:g.27239920C>G | GRCh37 |
| NC_000001.9:g.27112507C>G | NCBI36 |
| NG_012143.1:g.5648G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254227.4:c.512G>C (NR0B2) MANE Select | ENSP00000254227.3:p.Gly171Ala | |
| ENST00000254227.3:c.512G>C (NR0B2) | ENSP00000254227.3:p.Gly171Ala | |
| ENST00000435827.6:c.93+2194C>G (NUDC) | ENSP00000404020.2:n.93+2194C>G | |
| NM_021969.2:c.512G>C (NR0B2) | NP_068804.1:p.Gly171Ala | |
| XM_011540529.1:c.93+2194C>G (NUDC) | XP_011538831.1:n.93+2194C>G | |
| XM_011542297.1:c.512G>C (NR0B2) | XP_011540599.1:p.Gly171Ala | |
| XM_011542297.3:c.512G>C (NR0B2) | XP_011540599.1:p.Gly171Ala | |
| XM_017000094.1:c.93+2194C>G (NUDC) | XP_016855583.1:n.93+2194C>G | |
| XM_024452486.1:c.93+2194C>G (NUDC) | XP_024308254.1:n.93+2194C>G | |
| NM_021969.3:c.512G>C (NR0B2) MANE Select | NP_068804.1:p.Gly171Ala |