Revel Score:
ENST00000440501
0.799
ENST00000321666
0.799
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007913 (NFE)
Genomes Max Group AF
0.00003761 (NFE)
Exomes Max Group AF
0.0000795 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28404693G>T , CM000679.2:g.28404693G>T | GRCh38 |
| NC_000017.10:g.26731711G>T , CM000679.1:g.26731711G>T | GRCh37 |
| NC_000017.9:g.23755838G>T | NCBI36 |
| NG_013306.1:g.6518C>A , LRG_183:g.6518C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612814.5:c.1004C>A MANE Select | ENSP00000480703.1:p.Ala335Asp | |
| ENST00000578217.1:n.143C>A | ||
| ENST00000582590.1:n.1058C>A | ||
| ENST00000582735.1:c.129C>A | ||
| ENST00000612814.4:c.1004C>A | ENSP00000480703.1:p.Ala335Asp | |
| ENST00000618626.1:c.1004C>A | ENSP00000483652.1:p.Ala335Asp | |
| NM_001242366.2:c.1004C>A | NP_001229295.1:p.Ala335Asp | |
| NM_080669.5:c.1004C>A | NP_542400.2:p.Ala335Asp | |
| XM_005277786.2:c.1004C>A | XP_005277843.1:p.Ala335Asp | |
| XM_005277786.3:c.1004C>A | XP_005277843.1:p.Ala335Asp | |
| XM_017024110.1:c.782C>A | XP_016879599.1:p.Ala261Asp | |
| NM_080669.6:c.1004C>A MANE Select | NP_542400.2:p.Ala335Asp | |
| NM_001242366.3:c.1004C>A | NP_001229295.1:p.Ala335Asp |