Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637533G>C , CM000672.2:g.92637533G>C | GRCh38 |
| NC_000010.10:g.94397290G>C , CM000672.1:g.94397290G>C | GRCh37 |
| NC_000010.9:g.94387270G>C | NCBI36 |
| NG_032580.1:g.49466G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2148G>C MANE Select | ENSP00000260731.3:p.Gln716His | |
| ENST00000676621.1:c.*666G>C | ENSP00000503639.1:n.*666G>C | |
| ENST00000676647.1:c.1941G>C | ENSP00000503394.1:p.Gln647His | |
| ENST00000676757.1:c.1941G>C | ENSP00000504289.1:p.Gln647His | |
| ENST00000677720.1:c.*122G>C | ENSP00000504840.1:n.*122G>C | |
| ENST00000260731.4:c.2148G>C | ENSP00000260731.3:p.Gln716His | |
| NM_004523.3:c.2148G>C | NP_004514.2:p.Gln716His | |
| NM_004523.4:c.2148G>C MANE Select | NP_004514.2:p.Gln716His |