Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423114C>T , CM000669.2:g.94423114C>T | GRCh38 |
| NC_000007.13:g.94052426C>T , CM000669.1:g.94052426C>T | GRCh37 |
| NC_000007.12:g.93890362C>T | NCBI36 |
| NG_007405.1:g.33554C>T , LRG_2:g.33554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2561C>T MANE Select | ENSP00000297268.6:p.Thr854Ile | |
| ENST00000297268.10:c.2561C>T | ENSP00000297268.6:p.Thr854Ile | |
| ENST00000481570.5:n.644C>T | ||
| ENST00000497316.5:n.958C>T | ||
| ENST00000620463.1:c.2555C>T | ENSP00000477719.1:p.Thr852Ile | |
| NM_000089.3:c.2561C>T , LRG_2t1:c.2561C>T | NP_000080.2:p.Thr854Ile | |
| NM_000089.4:c.2561C>T MANE Select | NP_000080.2:p.Thr854Ile |