Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637470T>C , CM000672.2:g.92637470T>C | GRCh38 |
| NC_000010.10:g.94397227T>C , CM000672.1:g.94397227T>C | GRCh37 |
| NC_000010.9:g.94387207T>C | NCBI36 |
| NG_032580.1:g.49403T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2085T>C MANE Select | ENSP00000260731.3:p.Cys695= | |
| ENST00000676621.1:c.*603T>C | ENSP00000503639.1:n.*603T>C | |
| ENST00000676647.1:c.1878T>C | ENSP00000503394.1:p.Cys626= | |
| ENST00000676757.1:c.1878T>C | ENSP00000504289.1:p.Cys626= | |
| ENST00000677720.1:c.*59T>C | ENSP00000504840.1:n.*59T>C | |
| ENST00000260731.4:c.2085T>C | ENSP00000260731.3:p.Cys695= | |
| NM_004523.3:c.2085T>C | NP_004514.2:p.Cys695= | |
| NM_004523.4:c.2085T>C MANE Select | NP_004514.2:p.Cys695= |