Revel Score:
ENST00000448838
0.658
ENST00000227868 (MANE Select)
0.658
ENST00000430469
0.658
ENST00000526309
0.532
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012298 (AFR)
Genomes Max Group AF
0.00016696 (AFR)
Exomes Max Group AF
0.00002376 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34994922A>G , CM000673.2:g.34994922A>G | GRCh38 |
| NC_000011.9:g.35016469A>G , CM000673.1:g.35016469A>G | GRCh37 |
| NC_000011.8:g.34973045A>G | NCBI36 |
| NG_013368.1:g.83793A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.1076A>G | ENSP00000389404.3:p.Asn359Ser | |
| ENST00000227868.9:c.1256A>G MANE Select | ENSP00000227868.4:p.Asn419Ser | |
| ENST00000227868.8:c.1256A>G | ENSP00000227868.4:p.Asn419Ser | |
| ENST00000430469.6:c.575A>G | ENSP00000415695.2:p.Asn192Ser | |
| ENST00000448838.7:c.1211A>G | ENSP00000389404.2:p.Asn404Ser | |
| ENST00000477173.3:n.161+2543A>G | ||
| ENST00000526309.1:c.319A>G | ||
| NM_001135024.1:c.1211A>G | NP_001128496.1:p.Asn404Ser | |
| NM_001166158.1:c.575A>G | NP_001159630.1:p.Asn192Ser | |
| NM_003477.2:c.1256A>G | NP_003468.2:p.Asn419Ser | |
| XM_011520390.1:c.1076A>G | XP_011518692.1:p.Asn359Ser | |
| NM_003477.3:c.1256A>G MANE Select | NP_003468.2:p.Asn419Ser | |
| NM_001135024.2:c.1076A>G | NP_001128496.2:p.Asn359Ser | |
| NM_001166158.2:c.575A>G | NP_001159630.1:p.Asn192Ser |