COSMIC:
COSM147452 (not active)
Revel Score:
ENST00000545199
0.002
ENST00000539261 (MANE Select)
0.019
ENST00000228938
0.019
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52976867 (AFR)
Genomes Max Group AF
0.52501591 (AFR)
Exomes Max Group AF
0.53160597 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14882147T>C , CM000674.2:g.14882147T>C | GRCh38 |
| NC_000012.11:g.15035081T>C , CM000674.1:g.15035081T>C | GRCh37 |
| NC_000012.10:g.14926348T>C | NCBI36 |
| NG_023331.1:g.8773A>G | |
| NG_023331.2:g.8773A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539261.6:c.304A>G (MGP) MANE Select | ENSP00000445907.1:p.Thr102Ala | |
| ENST00000648334.1:n.126-21860T>C (C12orf60) | ||
| ENST00000228938.5:c.379A>G (MGP) | ENSP00000228938.5:p.Thr127Ala | |
| ENST00000527783.1:n.76-17022T>C (C12orf60) | ||
| ENST00000533472.1:n.87-21860T>C (C12orf60) | ||
| ENST00000539261.5:c.304A>G (MGP) | ENSP00000445907.1:p.Thr102Ala | |
| ENST00000545199.5:c.167A>G (MGP) | ||
| NM_000900.3:c.304A>G (MGP) | NP_000891.2:p.Thr102Ala | |
| NM_001190839.1:c.379A>G (MGP) | NP_001177768.1:p.Thr127Ala | |
| NM_000900.4:c.304A>G (MGP) | NP_000891.2:p.Thr102Ala | |
| NM_001190839.2:c.379A>G (MGP) | NP_001177768.1:p.Thr127Ala | |
| NM_000900.5:c.304A>G (MGP) MANE Select | NP_000891.2:p.Thr102Ala | |
| NM_001190839.3:c.379A>G (MGP) | NP_001177768.1:p.Thr127Ala |