Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144205G= , CM000670.2:g.38144205G= | GRCh38 |
| NC_000008.10:g.38001723G= , CM000670.1:g.38001723G= | GRCh37 |
| NC_000008.9:g.38120880G= | NCBI36 |
| NG_011827.1:g.11878C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*68C= MANE Select | ENSP00000276449.3:n.*68C= | |
| ENST00000276449.8:c.*68C= | ENSP00000276449.3:n.*68C= | |
| ENST00000520114.1:n.2895C= | ||
| NM_000349.2:c.*68C= | NP_000340.2:n.*68C= | |
| XM_006716392.1:c.832C= | XP_006716455.1:p.Leu278= | |
| NM_000349.3:c.*68C= MANE Select | NP_000340.2:n.*68C= |