Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144202C= , CM000670.2:g.38144202C= | GRCh38 |
| NC_000008.10:g.38001720C= , CM000670.1:g.38001720C= | GRCh37 |
| NC_000008.9:g.38120877C= | NCBI36 |
| NG_011827.1:g.11881G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*71G= MANE Select | ENSP00000276449.3:n.*71G= | |
| ENST00000276449.8:c.*71G= | ENSP00000276449.3:n.*71G= | |
| ENST00000520114.1:n.2898G= | ||
| NM_000349.2:c.*71G= | NP_000340.2:n.*71G= | |
| XM_006716392.1:c.835G= | XP_006716455.1:p.Glu279= | |
| NM_000349.3:c.*71G= MANE Select | NP_000340.2:n.*71G= |