Revel Score:
ENST00000309244 (MANE Select)
0.826
ENST00000354232
0.826
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000751 (NFE)
Genomes Max Group AF
0.00000798 (AFR)
Exomes Max Group AF
0.00000716 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51350385C>T , CM000681.2:g.51350385C>T | GRCh38 |
| NC_000019.9:g.51853639C>T , CM000681.1:g.51853639C>T | GRCh37 |
| NC_000019.8:g.56545451C>T | NCBI36 |
| NG_007115.1:g.21034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309244.9:c.382G>A MANE Select | ENSP00000311930.3:p.Asp128Asn | |
| ENST00000309244.8:c.382G>A | ENSP00000311930.3:p.Asp128Asn | |
| ENST00000354232.8:c.655G>A | ENSP00000346173.3:p.Asp219Asn | |
| ENST00000593992.1:n.405G>A | ||
| ENST00000596253.1:c.223G>A | ENSP00000469628.1:p.Asp75Asn | |
| ENST00000600067.1:c.*308G>A | ENSP00000469452.1:n.*308G>A | |
| NM_001014763.1:c.655G>A | NP_001014763.1:p.Asp219Asn | |
| NM_001985.2:c.382G>A | NP_001976.1:p.Asp128Asn | |
| XM_024451418.1:c.271G>A | XP_024307186.1:p.Asp91Asn | |
| NM_001985.3:c.382G>A MANE Select | NP_001976.1:p.Asp128Asn |