Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144377G>T , CM000670.2:g.38144377G>T | GRCh38 |
| NC_000008.10:g.38001895G>T , CM000670.1:g.38001895G>T | GRCh37 |
| NC_000008.9:g.38121052G>T | NCBI36 |
| NG_011827.1:g.11706C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.754C>A MANE Select | ENSP00000276449.3:p.Pro252Thr | |
| ENST00000276449.8:c.754C>A | ENSP00000276449.3:p.Pro252Thr | |
| ENST00000520114.1:n.2723C>A | ||
| ENST00000522050.1:c.596C>A | ||
| NM_000349.2:c.754C>A | NP_000340.2:p.Pro252Thr | |
| XM_006716392.1:c.660C>A | XP_006716455.1:p.Cys220Ter | |
| NM_000349.3:c.754C>A MANE Select | NP_000340.2:p.Pro252Thr |