Revel Score:
ENST00000292901
0.424
ENST00000380299
0.424
ENST00000417377
0.424
ENST00000429817
0.424
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005798 (MID)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00006092 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234395A>T , CM000673.2:g.5234395A>T | GRCh38 |
| NC_000011.9:g.5255625A>T , CM000673.1:g.5255625A>T | GRCh37 |
| NC_000011.8:g.5212201A>T | NCBI36 |
| NG_000007.3:g.63221T>A | |
| NG_063112.2:g.14263T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.39T>A | ENSP00000494708.1:p.Asn13Lys | |
| ENST00000650601.1:c.39T>A MANE Select | ENSP00000497529.1:p.Asn13Lys | |
| ENST00000292901.7:c.39T>A | ENSP00000292901.3:p.Asn13Lys | |
| ENST00000380299.3:c.39T>A | ENSP00000369654.3:p.Asn13Lys | |
| ENST00000417377.1:c.39T>A | ENSP00000414741.1:p.Asn13Lys | |
| ENST00000429817.1:c.39T>A | ENSP00000393810.1:p.Asn13Lys | |
| NM_000519.3:c.39T>A | NP_000510.1:p.Asn13Lys | |
| NM_000519.4:c.39T>A MANE Select | NP_000510.1:p.Asn13Lys |