Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7690177G>A , CM000674.2:g.7690177G>A | GRCh38 |
| NC_000012.11:g.7842773G>A , CM000674.1:g.7842773G>A | GRCh37 |
| NC_000012.10:g.7734040G>A | NCBI36 |
| NG_028167.1:g.10588C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020634.3:c.796C>T MANE Select | NP_065685.1:p.Arg266Cys |
| ENST00000329913.4:c.796C>T MANE Select | ENSP00000331745.3:p.Arg266Cys |
| NM_020634.1:c.796C>T | NP_065685.1:p.Arg266Cys |
| NM_020634.2:c.796C>T | NP_065685.1:p.Arg266Cys |
| ENST00000329913.3:c.796C>T | ENSP00000331745.3:p.Arg266Cys |