Revel Score:
ENST00000254227 (MANE Select)
0.932
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26912036C>G , CM000663.2:g.26912036C>G | GRCh38 |
| NC_000001.10:g.27238527C>G , CM000663.1:g.27238527C>G | GRCh37 |
| NC_000001.9:g.27111114C>G | NCBI36 |
| NG_012143.1:g.7041G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254227.4:c.583G>C (NR0B2) MANE Select | ENSP00000254227.3:p.Ala195Pro | |
| ENST00000254227.3:c.583G>C (NR0B2) | ENSP00000254227.3:p.Ala195Pro | |
| ENST00000435827.6:c.93+801C>G (NUDC) | ENSP00000404020.2:n.93+801C>G | |
| NM_021969.2:c.583G>C (NR0B2) | NP_068804.1:p.Ala195Pro | |
| XM_011540529.1:c.93+801C>G (NUDC) | XP_011538831.1:n.93+801C>G | |
| XM_017000094.1:c.93+801C>G (NUDC) | XP_016855583.1:n.93+801C>G | |
| XM_024452486.1:c.93+801C>G (NUDC) | XP_024308254.1:n.93+801C>G | |
| NM_021969.3:c.583G>C (NR0B2) MANE Select | NP_068804.1:p.Ala195Pro |