Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52514961C>T , CM000674.2:g.52514961C>T | GRCh38 |
| NC_000012.11:g.52908745C>T , CM000674.1:g.52908745C>T | GRCh37 |
| NC_000012.10:g.51195012C>T | NCBI36 |
| NG_008297.1:g.10499G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1754G>A MANE Select | NP_000415.2:p.Arg585Gln |
| ENST00000252242.9:c.1754G>A MANE Select | ENSP00000252242.4:p.Arg585Gln |
| NM_000424.3:c.1754G>A | NP_000415.2:p.Arg585Gln |
| ENST00000252242.8:c.1754G>A | ENSP00000252242.4:p.Arg585Gln |