Revel Score:
ENST00000417377
0.198
ENST00000380299
0.238
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5233032G>T , CM000673.2:g.5233032G>T | GRCh38 |
| NC_000011.9:g.5254262G>T , CM000673.1:g.5254262G>T | GRCh37 |
| NC_000011.8:g.5210838G>T | NCBI36 |
| NG_000007.3:g.64584C>A | |
| NG_063112.2:g.15626C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.376C>A | ENSP00000494708.1:p.Gln126Lys | |
| ENST00000650601.1:c.376C>A MANE Select | ENSP00000497529.1:p.Gln126Lys | |
| ENST00000292901.7:c.316-234C>A | ENSP00000292901.3:n.316-234C>A | |
| ENST00000380299.3:c.376C>A | ENSP00000369654.3:p.Gln126Lys | |
| ENST00000417377.1:c.153C>A | ENSP00000414741.1:p.His51Gln | |
| NM_000519.3:c.376C>A | NP_000510.1:p.Gln126Lys | |
| NM_000519.4:c.376C>A MANE Select | NP_000510.1:p.Gln126Lys |