Revel Score:
ENST00000440501
0.031
ENST00000321666
0.031
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00298075 (AFR)
Genomes Max Group AF
0.00286743 (AFR)
Exomes Max Group AF
0.00281868 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28405957G>A , CM000679.2:g.28405957G>A | GRCh38 |
| NC_000017.10:g.26732975G>A , CM000679.1:g.26732975G>A | GRCh37 |
| NC_000017.9:g.23757102G>A | NCBI36 |
| NG_013306.1:g.5254C>T , LRG_183:g.5254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612814.5:c.158C>T MANE Select | ENSP00000480703.1:p.Ala53Val | |
| ENST00000581516.1:c.-65C>T | ENSP00000462942.1:n.-65C>T | |
| ENST00000582590.1:n.212C>T | ||
| ENST00000584426.1:c.-36-489C>T | ENSP00000467416.1:n.-36-489C>T | |
| ENST00000584995.5:c.-65C>T | ENSP00000464190.1:n.-65C>T | |
| ENST00000612814.4:c.158C>T | ENSP00000480703.1:p.Ala53Val | |
| ENST00000618626.1:c.158C>T | ENSP00000483652.1:p.Ala53Val | |
| NM_001242366.2:c.158C>T | NP_001229295.1:p.Ala53Val | |
| NM_080669.5:c.158C>T | NP_542400.2:p.Ala53Val | |
| XM_005277786.2:c.158C>T | XP_005277843.1:p.Ala53Val | |
| XR_934643.1:n.89+506G>A | ||
| XM_005277786.3:c.158C>T | XP_005277843.1:p.Ala53Val | |
| XM_017024110.1:c.-65C>T | XP_016879599.1:n.-65C>T | |
| NM_080669.6:c.158C>T MANE Select | NP_542400.2:p.Ala53Val | |
| NM_001242366.3:c.158C>T | NP_001229295.1:p.Ala53Val |