Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92645550T>C , CM000672.2:g.92645550T>C | GRCh38 |
| NC_000010.10:g.94405307T>C , CM000672.1:g.94405307T>C | GRCh37 |
| NC_000010.9:g.94395287T>C | NCBI36 |
| NG_032580.1:g.57483T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2455T>C MANE Select | ENSP00000260731.3:p.Cys819Arg | |
| ENST00000676621.1:c.*973T>C | ENSP00000503639.1:n.*973T>C | |
| ENST00000676647.1:c.2248T>C | ENSP00000503394.1:p.Cys750Arg | |
| ENST00000676757.1:c.2248T>C | ENSP00000504289.1:p.Cys750Arg | |
| ENST00000677720.1:c.*429T>C | ENSP00000504840.1:n.*429T>C | |
| ENST00000260731.4:c.2455T>C | ENSP00000260731.3:p.Cys819Arg | |
| NM_004523.3:c.2455T>C | NP_004514.2:p.Cys819Arg | |
| NM_004523.4:c.2455T>C MANE Select | NP_004514.2:p.Cys819Arg |