Revel Score:
ENST00000267622 (MANE Select)
0.037
ENST00000542257
0.037
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00411039 (NFE)
Genomes Max Group AF
0.00300873 (NFE)
Exomes Max Group AF
0.00415862 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92005874T>C , CM000676.2:g.92005874T>C | GRCh38 |
| NC_000014.8:g.92472218T>C , CM000676.1:g.92472218T>C | GRCh37 |
| NC_000014.7:g.91541971T>C | NCBI36 |
| NG_016970.1:g.39186A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.2102A>G MANE Select | ENSP00000267622.4:p.Asn701Ser | |
| ENST00000554357.5:c.1248A>G | ||
| NM_004239.3:c.2102A>G | NP_004230.2:p.Asn701Ser | |
| XM_005268214.2:c.776A>G | XP_005268271.1:p.Asn259Ser | |
| XM_005268215.2:c.1527+1766A>G | XP_005268272.1:n.1527+1766A>G | |
| XM_006720321.2:c.2099A>G | XP_006720384.1:p.Asn700Ser | |
| XM_011537361.1:c.2102A>G | XP_011535663.1:p.Asn701Ser | |
| XR_943560.1:n.2557A>G | ||
| NM_001321851.1:c.2099A>G | NP_001308780.1:p.Asn700Ser | |
| NM_004239.4:c.2102A>G MANE Select | NP_004230.2:p.Asn701Ser | |
| XM_017021787.2:c.1397A>G | XP_016877276.1:p.Asn466Ser | |
| XM_017021788.2:c.776A>G | XP_016877277.1:p.Asn259Ser | |
| XR_001750598.2:n.2551A>G | ||
| XR_943560.2:n.2551A>G |