Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52316937G>A , CM000674.2:g.52316937G>A | GRCh38 |
| NC_000012.11:g.52710721G>A , CM000674.1:g.52710721G>A | GRCh37 |
| NC_000012.10:g.50996988G>A | NCBI36 |
| NG_008352.1:g.9462C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002282.3:c.837C>T MANE Select | NP_002273.3:p.Ile279= |
| ENST00000293670.3:c.837C>T MANE Select | ENSP00000293670.3:p.Ile279= |