Revel Score:
ENST00000378364 (MANE Select)
0.925
ENST00000426324
0.925
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810550T>A , CM000678.2:g.88810550T>A | GRCh38 |
| NC_000016.9:g.88876958T>A , CM000678.1:g.88876958T>A | GRCh37 |
| NC_000016.8:g.87404459T>A | NCBI36 |
| NG_008013.1:g.6385A>T | |
| NG_028266.1:g.11773T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.194A>T MANE Select | ENSP00000367615.3:p.Asp65Val | |
| ENST00000378364.7:c.194A>T | ENSP00000367615.3:p.Asp65Val | |
| ENST00000426324.6:c.194A>T | ENSP00000397007.2:p.Asp65Val | |
| ENST00000562464.1:n.332-402A>T | ||
| ENST00000563655.5:c.241-402A>T | ENSP00000456012.1:n.241-402A>T | |
| ENST00000567391.5:c.188-402A>T | ENSP00000457964.1:n.188-402A>T | |
| ENST00000567713.5:c.194A>T | ENSP00000455749.1:p.Asp65Val | |
| ENST00000568319.5:c.188-402A>T | ENSP00000456905.1:n.188-402A>T | |
| ENST00000569616.1:c.192A>T | ||
| NM_000485.2:c.194A>T | NP_000476.1:p.Asp65Val | |
| NM_001030018.1:c.194A>T | NP_001025189.1:p.Asp65Val | |
| NM_000485.3:c.194A>T MANE Select | NP_000476.1:p.Asp65Val | |
| NM_001030018.2:c.194A>T | NP_001025189.1:p.Asp65Val |