Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38143853C>T , CM000670.2:g.38143853C>T | GRCh38 |
| NC_000008.10:g.38001371C>T , CM000670.1:g.38001371C>T | GRCh37 |
| NC_000008.9:g.38120528C>T | NCBI36 |
| NG_011827.1:g.12230G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.*420G>A (STAR) MANE Select | NP_000340.2:n.*420G>A |
| ENST00000276449.9:c.*420G>A (STAR) MANE Select | ENSP00000276449.3:n.*420G>A |
| NM_000349.2:c.*420G>A (STAR) | NP_000340.2:n.*420G>A |
| ENST00000276449.8:c.*420G>A (STAR) | ENSP00000276449.3:n.*420G>A |
| ENST00000520114.1:n.3247G>A (STAR) | |
| ENST00000521808.5:c.390C>T (ASH2L) | |
| XM_006716392.1:c.*317G>A (STAR) | XP_006716455.1:n.*317G>A |