Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38143863C= , CM000670.2:g.38143863C= | GRCh38 |
| NC_000008.10:g.38001381C= , CM000670.1:g.38001381C= | GRCh37 |
| NC_000008.9:g.38120538C= | NCBI36 |
| NG_011827.1:g.12220G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.*410G= (STAR) MANE Select | NP_000340.2:n.*410G= |
| ENST00000276449.9:c.*410G= (STAR) MANE Select | ENSP00000276449.3:n.*410G= |
| NM_000349.2:c.*410G= (STAR) | NP_000340.2:n.*410G= |
| ENST00000276449.8:c.*410G= (STAR) | ENSP00000276449.3:n.*410G= |
| ENST00000520114.1:n.3237G= (STAR) | |
| ENST00000521808.5:c.400C= (ASH2L) | |
| XM_006716392.1:c.*307G= (STAR) | XP_006716455.1:n.*307G= |