Revel Score:
ENST00000378827 (MANE Select)
0.086
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0916208 (EAS)
Genomes Max Group AF
0.07772961 (EAS)
Exomes Max Group AF
0.09274395 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6770235T>G , CM000682.2:g.6770235T>G | GRCh38 |
| NC_000020.10:g.6750882T>G , CM000682.1:g.6750882T>G | GRCh37 |
| NC_000020.9:g.6698882T>G | NCBI36 |
| NG_023233.1:g.7138T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.109T>G MANE Select | ENSP00000368104.3:p.Ser37Ala | |
| ENST00000378827.4:c.109T>G | ENSP00000368104.3:p.Ser37Ala | |
| NM_001200.2:c.109T>G | NP_001191.1:p.Ser37Ala | |
| XM_011529323.1:c.-123+1360T>G | XP_011527625.1:n.-123+1360T>G | |
| NM_001200.3:c.109T>G | NP_001191.1:p.Ser37Ala | |
| NM_001200.4:c.109T>G MANE Select | NP_001191.1:p.Ser37Ala |