Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52316491C>T , CM000674.2:g.52316491C>T | GRCh38 |
| NC_000012.11:g.52710275C>T , CM000674.1:g.52710275C>T | GRCh37 |
| NC_000012.10:g.50996542C>T | NCBI36 |
| NG_008352.1:g.9908G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002282.3:c.1018G>A MANE Select | NP_002273.3:p.Glu340Lys |
| ENST00000293670.3:c.1018G>A MANE Select | ENSP00000293670.3:p.Glu340Lys |