Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582437G= , CM000673.2:g.47582437G= | GRCh38 |
| NC_000011.9:g.47603989G= , CM000673.1:g.47603989G= | GRCh37 |
| NC_000011.8:g.47560565G= | NCBI36 |
| NG_011946.1:g.8428G= | |
| NG_011946.2:g.8428G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263774.9:c.596G= MANE Select | ENSP00000263774.4:p.Arg199= | |
| ENST00000531351.2:n.1791G= | ||
| ENST00000677462.1:n.3070G= | ||
| ENST00000678975.1:n.2853G= | ||
| ENST00000263774.8:c.596G= | ENSP00000263774.4:p.Arg199= | |
| ENST00000524568.1:n.699G= | ||
| ENST00000525212.1:n.251G= | ||
| ENST00000525378.5:n.534G= | ||
| ENST00000527178.1:n.196G= | ||
| ENST00000533507.5:n.1490G= | ||
| NM_004551.2:c.596G= | NP_004542.1:p.Arg199= | |
| NM_004551.3:c.596G= MANE Select | NP_004542.1:p.Arg199= |