Revel Score:
ENST00000265689 (MANE Select)
0.112
ENST00000356135
0.112
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68070216T>C , CM000673.2:g.68070216T>C | GRCh38 |
| NC_000011.9:g.67837683T>C , CM000673.1:g.67837683T>C | GRCh37 |
| NC_000011.8:g.67594259T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265689.9:c.842A>G MANE Select | ENSP00000265689.4:p.Asn281Ser | |
| ENST00000265689.8:c.842A>G | ENSP00000265689.4:p.Asn281Ser | |
| ENST00000356135.9:c.788A>G | ENSP00000348454.4:p.Asn263Ser | |
| ENST00000528235.5:n.470A>G | ||
| ENST00000533910.5:n.733A>G | ||
| NM_001277.2:c.842A>G | NP_001268.2:p.Asn281Ser | |
| NM_212469.1:c.788A>G | NP_997634.1:p.Asn263Ser | |
| XR_428904.2:n.1053A>G | ||
| XR_428905.1:n.2412A>G | ||
| XR_949772.1:n.999A>G | ||
| XR_949773.1:n.939A>G | ||
| XR_949774.1:n.1770A>G | ||
| XR_949775.1:n.2298A>G | ||
| XR_949776.1:n.228A>G | ||
| XR_949777.1:n.1151A>G | ||
| XM_017017147.1:c.728A>G | XP_016872636.1:p.Asn243Ser | |
| XM_017017148.2:c.314A>G | XP_016872637.1:p.Asn105Ser | |
| XR_428904.3:n.1054A>G | ||
| XR_428905.3:n.6626A>G | ||
| XR_949772.2:n.982A>G | ||
| XR_949773.2:n.940A>G | ||
| NM_001277.3:c.842A>G MANE Select | NP_001268.2:p.Asn281Ser | |
| NM_001376219.1:c.872A>G | NP_001363148.1:p.Asn291Ser | |
| NM_001376220.1:c.728A>G | NP_001363149.1:p.Asn243Ser | |
| NM_001376221.1:c.476A>G | NP_001363150.1:p.Asn159Ser | |
| NM_001376222.1:c.422A>G | NP_001363151.1:p.Asn141Ser | |
| NM_212469.2:c.788A>G | NP_997634.1:p.Asn263Ser | |
| NR_164782.1:n.1053A>G |