Revel Score:
ENST00000301729 (MANE Select)
0.366
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2244431T>A , CM000678.2:g.2244431T>A | GRCh38 |
| NC_000016.9:g.2294432T>A , CM000678.1:g.2294432T>A | GRCh37 |
| NC_000016.8:g.2234433T>A | NCBI36 |
| NG_047046.1:g.12171A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301729.9:c.416A>T MANE Select | ENSP00000301729.4:p.Asn139Ile | |
| ENST00000301729.8:c.416A>T | ENSP00000301729.4:p.Asn139Ile | |
| ENST00000561688.1:n.412A>T | ||
| ENST00000562238.5:c.416A>T | ENSP00000456319.1:p.Asn139Ile | |
| ENST00000563029.5:n.480A>T | ||
| ENST00000563447.1:n.8A>T | ||
| ENST00000566379.1:c.239A>T | ENSP00000456565.1:p.Asn80Ile | |
| ENST00000570258.5:c.239A>T | ENSP00000457900.1:p.Asn80Ile | |
| NM_001178029.1:c.416A>T | NP_001171500.1:p.Asn139Ile | |
| NM_001919.3:c.416A>T | NP_001910.2:p.Asn139Ile | |
| NM_001919.4:c.416A>T MANE Select | NP_001910.2:p.Asn139Ile | |
| NM_001178029.2:c.416A>T | NP_001171500.1:p.Asn139Ile |