Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637539T>G , CM000672.2:g.92637539T>G | GRCh38 |
| NC_000010.10:g.94397296T>G , CM000672.1:g.94397296T>G | GRCh37 |
| NC_000010.9:g.94387276T>G | NCBI36 |
| NG_032580.1:g.49472T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2154T>G MANE Select | ENSP00000260731.3:p.His718Gln | |
| ENST00000676621.1:c.*672T>G | ENSP00000503639.1:n.*672T>G | |
| ENST00000676647.1:c.1947T>G | ENSP00000503394.1:p.His649Gln | |
| ENST00000676757.1:c.1947T>G | ENSP00000504289.1:p.His649Gln | |
| ENST00000677720.1:c.*128T>G | ENSP00000504840.1:n.*128T>G | |
| ENST00000260731.4:c.2154T>G | ENSP00000260731.3:p.His718Gln | |
| NM_004523.3:c.2154T>G | NP_004514.2:p.His718Gln | |
| NM_004523.4:c.2154T>G MANE Select | NP_004514.2:p.His718Gln |