COSMIC:
COSM1179689 (not active)
Revel Score:
ENST00000295108 (MANE Select)
0.197
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91141757 (EAS)
Genomes Max Group AF
0.89507857 (EAS)
Exomes Max Group AF
0.91119595 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181678728T>C , CM000664.2:g.181678728T>C | GRCh38 |
| NC_000002.11:g.182543455T>C , CM000664.1:g.182543455T>C | GRCh37 |
| NC_000002.10:g.182251700T>C | NCBI36 |
| NG_011820.3:g.6790A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496876.2:n.398+1702A>G (NEUROD1) | ||
| ENST00000683166.1:n.91+1702A>G (NEUROD1) | ||
| ENST00000683430.1:c.133A>G (NEUROD1) | ENSP00000506907.1:p.Thr45Ala | |
| ENST00000684079.1:c.133A>G (NEUROD1) | ENSP00000507492.1:p.Thr45Ala | |
| ENST00000684145.1:c.-455+1702A>G (CERKL) | ENSP00000508396.1:n.-455+1702A>G | |
| ENST00000295108.4:c.133A>G (NEUROD1) MANE Select | ENSP00000295108.3:p.Thr45Ala | |
| ENST00000295108.3:c.133A>G (NEUROD1) | ENSP00000295108.3:p.Thr45Ala | |
| ENST00000479558.5:n.236+1702A>G (CERKL) | ||
| ENST00000496876.1:n.118+1702A>G (NEUROD1) | ||
| ENST00000497337.1:n.212+1702A>G (CERKL) | ||
| NR_146175.1:n.236+1702A>G (NEUROD1) | ||
| NR_146176.1:n.236+1702A>G (NEUROD1) | ||
| NR_146176.2:n.88+1702A>G (NEUROD1) | ||
| NM_002500.5:c.133A>G (NEUROD1) MANE Select | NP_002491.3:p.Thr45Ala | |
| NR_146175.2:n.88+1702A>G (NEUROD1) |