Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763627T>G , CM000674.2:g.57763627T>G | GRCh38 |
| NC_000012.11:g.58157410T>G , CM000674.1:g.58157410T>G | GRCh37 |
| NC_000012.10:g.56443677T>G | NCBI36 |
| NG_007076.1:g.8567A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1478A>C | ENSP00000518840.1:p.Gln493Pro | |
| ENST00000713545.1:c.*402A>C | ENSP00000518841.1:n.*402A>C | |
| ENST00000228606.9:c.1397A>C MANE Select | ENSP00000228606.4:p.Gln466Pro | |
| ENST00000228606.8:c.1397A>C | ENSP00000228606.4:p.Gln466Pro | |
| ENST00000547344.5:n.1536A>C | ||
| NM_000785.3:c.1397A>C | NP_000776.1:p.Gln466Pro | |
| NM_000785.4:c.1397A>C MANE Select | NP_000776.1:p.Gln466Pro |