ClinVar RCV:
ClinVar Variation:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87709203A>G , CM000672.2:g.87709203A>G | GRCh38 |
| NC_000010.10:g.89468960A>G , CM000672.1:g.89468960A>G | GRCh37 |
| NC_000010.9:g.89458940A>G | NCBI36 |
| NG_012150.1:g.54485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.35A>G MANE Select | ENSP00000406157.1:p.Gln12Arg | |
| ENST00000361175.8:c.35A>G | ENSP00000354436.4:p.Gln12Arg | |
| ENST00000456849.1:c.35A>G | ENSP00000406157.1:p.Gln12Arg | |
| ENST00000465996.5:n.57A>G | ||
| ENST00000482258.1:n.78A>G | ||
| NM_001015880.1:c.35A>G | NP_001015880.1:p.Gln12Arg | |
| NM_004670.3:c.35A>G | NP_004661.2:p.Gln12Arg | |
| NM_001015880.2:c.35A>G MANE Select | NP_001015880.1:p.Gln12Arg | |
| NM_004670.4:c.35A>G | NP_004661.2:p.Gln12Arg |