Revel Score:
ENST00000290209
0.941
ENST00000397707
0.941
ENST00000354181 (MANE Select)
0.941
ENST00000397702
0.941
ENST00000458406
0.941
ENST00000451844
0.941
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00430807 (EAS)
Genomes Max Group AF
0.00037949 (EAS)
Exomes Max Group AF
0.00475207 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34254502C>T , CM000677.2:g.34254502C>T | GRCh38 |
| NC_000015.9:g.34546703C>T , CM000677.1:g.34546703C>T | GRCh37 |
| NC_000015.8:g.32333995C>T | NCBI36 |
| NG_007951.1:g.88563G>A , LRG_270:g.88563G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.964G>A MANE Select | ENSP00000346112.3:p.Gly322Ser | |
| ENST00000675289.1:n.1746G>A | ||
| ENST00000676379.1:c.964G>A | ENSP00000502539.1:p.Gly322Ser | |
| ENST00000290209.9:c.811G>A | ENSP00000290209.5:p.Gly271Ser | |
| ENST00000354181.7:c.964G>A | ENSP00000346112.3:p.Gly322Ser | |
| ENST00000397702.6:c.787G>A | ENSP00000380814.2:p.Gly263Ser | |
| ENST00000397707.6:c.919G>A | ENSP00000380819.2:p.Gly307Ser | |
| ENST00000458406.6:c.787G>A | ENSP00000387725.2:p.Gly263Ser | |
| ENST00000558589.5:c.937G>A | ENSP00000452776.1:p.Gly313Ser | |
| ENST00000558667.5:c.964G>A | ENSP00000453473.1:p.Gly322Ser | |
| ENST00000559523.5:c.787G>A | ENSP00000452904.1:p.Gly263Ser | |
| ENST00000559664.5:c.964G>A | ENSP00000453702.1:p.Gly322Ser | |
| ENST00000560164.5:c.400G>A | ENSP00000452705.1:p.Gly134Ser | |
| ENST00000560611.5:c.964G>A | ENSP00000454168.1:p.Gly322Ser | |
| ENST00000561080.5:c.964G>A | ENSP00000454069.1:p.Gly322Ser | |
| NM_001042494.1:c.787G>A | NP_001035959.1:p.Gly263Ser | |
| NM_001042495.1:c.787G>A | NP_001035960.1:p.Gly263Ser | |
| NM_001042496.1:c.937G>A | NP_001035961.1:p.Gly313Ser | |
| NM_001042497.1:c.919G>A | NP_001035962.1:p.Gly307Ser | |
| NM_005135.2:c.811G>A , LRG_270t1:c.811G>A | NP_005126.1:p.Gly271Ser | |
| NM_133647.1:c.964G>A , LRG_270t2:c.964G>A | NP_598408.1:p.Gly322Ser | |
| XM_006720793.2:c.817G>A | XP_006720856.1:p.Gly273Ser | |
| XM_011522267.1:c.964G>A | XP_011520569.1:p.Gly322Ser | |
| XM_011522268.1:c.964G>A | XP_011520570.1:p.Gly322Ser | |
| XM_011522269.1:c.964G>A | XP_011520571.1:p.Gly322Ser | |
| XR_429476.2:n.970G>A | ||
| XR_931960.1:n.970G>A | ||
| XR_931961.1:n.970G>A | ||
| NM_001365088.1:c.964G>A MANE Select | NP_001352017.1:p.Gly322Ser | |
| XM_006720793.4:c.817G>A | XP_006720856.1:p.Gly273Ser | |
| XM_011522269.3:c.964G>A | XP_011520571.1:p.Gly322Ser | |
| XR_931960.3:n.2214G>A | ||
| NM_001042494.2:c.787G>A | NP_001035959.1:p.Gly263Ser | |
| NM_001042495.2:c.787G>A | NP_001035960.1:p.Gly263Ser | |
| NM_001042496.2:c.937G>A | NP_001035961.1:p.Gly313Ser | |
| NM_001042497.2:c.919G>A | NP_001035962.1:p.Gly307Ser | |
| NM_133647.2:c.964G>A | NP_598408.1:p.Gly322Ser |