Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586533C>A , CM000673.2:g.67586533C>A | GRCh38 |
| NC_000011.9:g.67354004C>A , CM000673.1:g.67354004C>A | GRCh37 |
| NC_000011.8:g.67110580C>A | NCBI36 |
| NG_012075.1:g.7939C>A , LRG_723:g.7939C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.481C>A | ENSP00000381604.1:p.Pro161Thr | |
| ENST00000398606.10:c.589C>A MANE Select | ENSP00000381607.3:p.Pro197Thr | |
| ENST00000398603.5:c.481C>A | ENSP00000381604.1:p.Pro161Thr | |
| ENST00000398606.7:c.589C>A | ENSP00000381607.3:p.Pro197Thr | |
| ENST00000467591.1:n.700C>A | ||
| ENST00000494593.1:n.1561C>A | ||
| ENST00000498765.5:c.652C>A | ||
| NM_000852.3:c.589C>A , LRG_723t1:c.589C>A | NP_000843.1:p.Pro197Thr | |
| NM_000852.4:c.589C>A MANE Select | NP_000843.1:p.Pro197Thr |