Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637541C>T , CM000672.2:g.92637541C>T | GRCh38 |
| NC_000010.10:g.94397298C>T , CM000672.1:g.94397298C>T | GRCh37 |
| NC_000010.9:g.94387278C>T | NCBI36 |
| NG_032580.1:g.49474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2156C>T MANE Select | ENSP00000260731.3:p.Ser719Phe | |
| ENST00000676621.1:c.*674C>T | ENSP00000503639.1:n.*674C>T | |
| ENST00000676647.1:c.1949C>T | ENSP00000503394.1:p.Ser650Phe | |
| ENST00000676757.1:c.1949C>T | ENSP00000504289.1:p.Ser650Phe | |
| ENST00000677720.1:c.*130C>T | ENSP00000504840.1:n.*130C>T | |
| ENST00000260731.4:c.2156C>T | ENSP00000260731.3:p.Ser719Phe | |
| NM_004523.3:c.2156C>T | NP_004514.2:p.Ser719Phe | |
| NM_004523.4:c.2156C>T MANE Select | NP_004514.2:p.Ser719Phe |