Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92639863C>T , CM000672.2:g.92639863C>T | GRCh38 |
| NC_000010.10:g.94399620C>T , CM000672.1:g.94399620C>T | GRCh37 |
| NC_000010.9:g.94389600C>T | NCBI36 |
| NG_032580.1:g.51796C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2230C>T MANE Select | ENSP00000260731.3:p.Gln744Ter | |
| ENST00000676621.1:c.*748C>T | ENSP00000503639.1:n.*748C>T | |
| ENST00000676647.1:c.2023C>T | ENSP00000503394.1:p.Gln675Ter | |
| ENST00000676757.1:c.2023C>T | ENSP00000504289.1:p.Gln675Ter | |
| ENST00000677720.1:c.*204C>T | ENSP00000504840.1:n.*204C>T | |
| ENST00000260731.4:c.2230C>T | ENSP00000260731.3:p.Gln744Ter | |
| NM_004523.3:c.2230C>T | NP_004514.2:p.Gln744Ter | |
| NM_004523.4:c.2230C>T MANE Select | NP_004514.2:p.Gln744Ter |