Revel Score:
ENST00000268695 (MANE Select)
0.535
ENST00000542788
0.535
gnomAD v4:
Joint Max Group AF
0.00000381 (SAS)
Exomes Max Group AF
0.00000403 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88818029T>C , CM000678.2:g.88818029T>C | GRCh38 |
| NC_000016.9:g.88884437T>C , CM000678.1:g.88884437T>C | GRCh37 |
| NC_000016.8:g.87411938T>C | NCBI36 |
| NG_008667.1:g.43938A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.1460A>G MANE Select | ENSP00000268695.5:p.Asn487Ser | |
| ENST00000268695.9:c.1460A>G | ENSP00000268695.5:p.Asn487Ser | |
| ENST00000562593.5:n.4869A>G | ||
| ENST00000567525.5:c.1141A>G | ENSP00000454484.1:n.1141A>G | |
| ENST00000568613.5:c.1579A>G | ENSP00000457921.1:n.1579A>G | |
| NM_000512.4:c.1460A>G | NP_000503.1:p.Asn487Ser | |
| XM_005256301.2:c.1460A>G | XP_005256358.1:p.Asn487Ser | |
| XM_005256302.1:c.1478A>G | XP_005256359.1:p.Asn493Ser | |
| XM_011522982.1:c.1478A>G | XP_011521284.1:p.Asn493Ser | |
| XM_011522984.1:c.1478A>G | XP_011521286.1:p.Asn493Ser | |
| NM_001323543.1:c.905A>G | NP_001310472.1:p.Asn302Ser | |
| NM_001323544.1:c.1478A>G | NP_001310473.1:p.Asn493Ser | |
| XM_005256301.3:c.1460A>G | XP_005256358.1:p.Asn487Ser | |
| XM_011522982.2:c.1478A>G | XP_011521284.1:p.Asn493Ser | |
| XM_017023111.2:c.1478A>G | XP_016878600.1:p.Asn493Ser | |
| XM_017023112.2:c.1478A>G | XP_016878601.1:p.Asn493Ser | |
| XM_017023113.1:c.905A>G | XP_016878602.1:p.Asn302Ser | |
| NM_000512.5:c.1460A>G MANE Select | NP_000503.1:p.Asn487Ser | |
| NM_001323543.2:c.905A>G | NP_001310472.1:p.Asn302Ser | |
| NM_001323544.2:c.1478A>G | NP_001310473.1:p.Asn493Ser |