Revel Score:
ENST00000370328 (MANE Select)
0.211
ENST00000370325
0.211
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88248021 (EAS)
Genomes Max Group AF
0.84537481 (EAS)
Exomes Max Group AF
0.8842263 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151969707A>C , CM000685.2:g.151969707A>C | GRCh38 |
| NC_000023.10:g.151138179A>C , CM000685.1:g.151138179A>C | GRCh37 |
| NC_000023.9:g.150888835A>C | NCBI36 |
| NG_012511.1:g.9973T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370328.4:c.304T>G MANE Select | ENSP00000359353.3:p.Ser102Ala | |
| ENST00000370328.3:c.304T>G | ENSP00000359353.3:p.Ser102Ala | |
| ENST00000441219.5:c.*350T>G | ENSP00000389384.1:n.*350T>G | |
| ENST00000465405.1:n.398T>G | ||
| ENST00000474932.1:n.30T>G | ||
| NM_004961.3:c.304T>G | NP_004952.2:p.Ser102Ala | |
| XM_006724813.2:c.304T>G | XP_006724876.2:p.Ser102Ala | |
| XM_011531135.1:c.-36T>G | XP_011529437.1:n.-36T>G | |
| XM_011531136.1:c.-36T>G | XP_011529438.1:n.-36T>G | |
| XM_011531137.1:c.304T>G | XP_011529439.1:p.Ser102Ala | |
| XM_011531138.1:c.304T>G | XP_011529440.1:p.Ser102Ala | |
| XM_011531139.1:c.304T>G | XP_011529441.1:p.Ser102Ala | |
| XM_017029387.2:c.-36T>G | XP_016884876.1:n.-36T>G | |
| XM_017029389.2:c.-36T>G | XP_016884878.1:n.-36T>G | |
| XM_024452360.1:c.-36T>G | XP_024308128.1:n.-36T>G | |
| NM_004961.4:c.304T>G MANE Select | NP_004952.2:p.Ser102Ala |