Revel Score:
ENST00000336615 (MANE Select)
0.039
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00227353 (NFE)
Genomes Max Group AF
0.00173001 (NFE)
Exomes Max Group AF
0.00229187 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.824624A>G , CM000673.2:g.824624A>G | GRCh38 |
| NC_000011.9:g.824624A>G , CM000673.1:g.824624A>G | GRCh37 |
| NC_000011.8:g.814624A>G | NCBI36 |
| NG_023394.1:g.10724A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.1277A>G MANE Select | ENSP00000337701.4:p.Asn426Ser | |
| ENST00000336615.8:c.1277A>G | ENSP00000337701.4:p.Asn426Ser | |
| ENST00000525250.5:n.2131A>G | ||
| ENST00000529255.1:n.707A>G | ||
| ENST00000617551.1:c.275A>G | ENSP00000481602.1:p.Asn92Ser | |
| NM_020376.3:c.1277A>G | NP_065109.1:p.Asn426Ser | |
| XM_006718265.2:c.1419A>G | XP_006718328.1:p.Gln473= | |
| XM_006718266.2:c.1419A>G | XP_006718329.1:p.Gln473= | |
| XM_006718265.3:c.1419A>G | XP_006718328.1:p.Gln473= | |
| XM_006718266.3:c.1419A>G | XP_006718329.1:p.Gln473= | |
| XM_017018028.1:c.1277A>G | XP_016873517.1:p.Asn426Ser | |
| XM_024448618.1:c.1505A>G | XP_024304386.1:p.Asn502Ser | |
| NM_020376.4:c.1277A>G MANE Select | NP_065109.1:p.Asn426Ser |