Revel Score:
ENST00000380299
0.724
ENST00000417377
0.431
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5232980G>A , CM000673.2:g.5232980G>A | GRCh38 |
| NC_000011.9:g.5254210G>A , CM000673.1:g.5254210G>A | GRCh37 |
| NC_000011.8:g.5210786G>A | NCBI36 |
| NG_000007.3:g.64636C>T | |
| NG_063112.2:g.15678C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.428C>T | ENSP00000494708.1:p.Ala143Val | |
| ENST00000650601.1:c.428C>T MANE Select | ENSP00000497529.1:p.Ala143Val | |
| ENST00000292901.7:c.316-182C>T | ENSP00000292901.3:n.316-182C>T | |
| ENST00000380299.3:c.428C>T | ENSP00000369654.3:p.Ala143Val | |
| ENST00000417377.1:c.205C>T | ENSP00000414741.1:p.Leu69Phe | |
| NM_000519.3:c.428C>T | NP_000510.1:p.Ala143Val | |
| NM_000519.4:c.428C>T MANE Select | NP_000510.1:p.Ala143Val |