Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144321G= , CM000670.2:g.38144321G= | GRCh38 |
| NC_000008.10:g.38001839G= , CM000670.1:g.38001839G= | GRCh37 |
| NC_000008.9:g.38120996G= | NCBI36 |
| NG_011827.1:g.11762C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.810C= MANE Select | ENSP00000276449.3:p.His270= | |
| ENST00000276449.8:c.810C= | ENSP00000276449.3:p.His270= | |
| ENST00000520114.1:n.2779C= | ||
| ENST00000522050.1:c.652C= | ||
| NM_000349.2:c.810C= | NP_000340.2:p.His270= | |
| XM_006716392.1:c.716C= | XP_006716455.1:p.Thr239= | |
| NM_000349.3:c.810C= MANE Select | NP_000340.2:p.His270= |