Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144242C= , CM000670.2:g.38144242C= | GRCh38 |
| NC_000008.10:g.38001760C= , CM000670.1:g.38001760C= | GRCh37 |
| NC_000008.9:g.38120917C= | NCBI36 |
| NG_011827.1:g.11841G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*31G= MANE Select | ENSP00000276449.3:n.*31G= | |
| ENST00000276449.8:c.*31G= | ENSP00000276449.3:n.*31G= | |
| ENST00000520114.1:n.2858G= | ||
| ENST00000522050.1:c.731G= | ||
| NM_000349.2:c.*31G= | NP_000340.2:n.*31G= | |
| XM_006716392.1:c.795G= | XP_006716455.1:p.Gln265= | |
| NM_000349.3:c.*31G= MANE Select | NP_000340.2:n.*31G= |