Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637463C>G , CM000672.2:g.92637463C>G | GRCh38 |
| NC_000010.10:g.94397220C>G , CM000672.1:g.94397220C>G | GRCh37 |
| NC_000010.9:g.94387200C>G | NCBI36 |
| NG_032580.1:g.49396C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2078C>G MANE Select | ENSP00000260731.3:p.Thr693Ser | |
| ENST00000676621.1:c.*596C>G | ENSP00000503639.1:n.*596C>G | |
| ENST00000676647.1:c.1871C>G | ENSP00000503394.1:p.Thr624Ser | |
| ENST00000676757.1:c.1871C>G | ENSP00000504289.1:p.Thr624Ser | |
| ENST00000677720.1:c.*52C>G | ENSP00000504840.1:n.*52C>G | |
| ENST00000260731.4:c.2078C>G | ENSP00000260731.3:p.Thr693Ser | |
| NM_004523.3:c.2078C>G | NP_004514.2:p.Thr693Ser | |
| NM_004523.4:c.2078C>G MANE Select | NP_004514.2:p.Thr693Ser |