Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81758284G>A , CM000670.2:g.81758284G>A | GRCh38 |
| NC_000008.10:g.82670519G>A , CM000670.1:g.82670519G>A | GRCh37 |
| NC_000008.9:g.82833074G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297265.5:c.626G>A MANE Select | ENSP00000297265.4:p.Arg209Gln | |
| ENST00000297265.4:c.626G>A | ENSP00000297265.4:p.Arg209Gln | |
| NM_152284.3:c.626G>A | NP_689497.1:p.Arg209Gln | |
| NM_152284.4:c.626G>A MANE Select | NP_689497.1:p.Arg209Gln |