Revel Score:
ENST00000374625
0.029
ENST00000544305
0.029
ENST00000374630 (MANE Select)
0.029
ENST00000400191
0.029
ENST00000374632
0.029
ENST00000374627
0.029
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01259058 (AFR)
Genomes Max Group AF
0.01243948 (AFR)
Exomes Max Group AF
0.01215723 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22863060G>T , CM000663.2:g.22863060G>T | GRCh38 |
| NC_000001.10:g.23189553G>T , CM000663.1:g.23189553G>T | GRCh37 |
| NC_000001.9:g.23062140G>T | NCBI36 |
| NG_011804.2:g.157223G>T , LRG_780:g.157223G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374630.8:c.835G>T MANE Select | ENSP00000363761.3:p.Ala279Ser | |
| ENST00000374627.1:c.817G>T | ENSP00000363758.1:p.Ala273Ser | |
| ENST00000374630.7:c.835G>T | ENSP00000363761.3:p.Ala279Ser | |
| ENST00000374632.7:c.835G>T | ENSP00000363763.3:p.Ala279Ser | |
| ENST00000400191.7:c.835G>T | ENSP00000383053.3:p.Ala279Ser | |
| ENST00000465676.1:n.76G>T | ||
| ENST00000544305.5:c.835G>T | ENSP00000444174.1:p.Ala279Ser | |
| NM_001309192.1:c.835G>T | NP_001296121.1:p.Ala279Ser | |
| NM_001309193.1:c.835G>T | NP_001296122.1:p.Ala279Ser | |
| NM_004442.6:c.835G>T | NP_004433.2:p.Ala279Ser | |
| NM_004442.7:c.835G>T , LRG_780t1:c.835G>T | NP_004433.2:p.Ala279Ser | |
| NM_017449.3:c.835G>T | NP_059145.2:p.Ala279Ser | |
| NM_017449.4:c.835G>T , LRG_780t2:c.835G>T | NP_059145.2:p.Ala279Ser | |
| XM_006710441.2:c.814G>T | XP_006710504.1:p.Ala272Ser | |
| XM_006710442.2:c.835G>T | XP_006710505.1:p.Ala279Ser | |
| XM_006710441.4:c.814G>T | XP_006710504.1:p.Ala272Ser | |
| XM_006710442.4:c.835G>T | XP_006710505.1:p.Ala279Ser | |
| NM_001309192.2:c.835G>T | NP_001296121.1:p.Ala279Ser | |
| NM_001309193.2:c.835G>T | NP_001296122.1:p.Ala279Ser | |
| NM_017449.5:c.835G>T MANE Select | NP_059145.2:p.Ala279Ser |