Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519129A>T , CM000674.2:g.52519129A>T | GRCh38 |
| NC_000012.11:g.52912913A>T , CM000674.1:g.52912913A>T | GRCh37 |
| NC_000012.10:g.51199180A>T | NCBI36 |
| NG_008297.1:g.6331T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.587T>A MANE Select | ENSP00000252242.4:p.Leu196Gln | |
| ENST00000252242.8:c.587T>A | ENSP00000252242.4:p.Leu196Gln | |
| ENST00000549420.1:c.257T>A | ENSP00000447209.1:p.Leu86Gln | |
| ENST00000551013.1:n.115T>A | ||
| ENST00000552629.5:n.685T>A | ||
| NM_000424.3:c.587T>A | NP_000415.2:p.Leu196Gln | |
| NM_000424.4:c.587T>A MANE Select | NP_000415.2:p.Leu196Gln |