Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776759C>T , CM000677.2:g.89776759C>T | GRCh38 |
| NC_000015.9:g.90319990C>T , CM000677.1:g.90319990C>T | GRCh37 |
| NC_000015.8:g.88120994C>T | NCBI36 |
| NG_008608.1:g.5402C>T | |
| NG_008608.2:g.21169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.402C>T MANE Select | ENSP00000342392.3:p.His134= | |
| ENST00000341735.3:c.402C>T | ENSP00000342392.3:p.His134= | |
| ENST00000558723.1:n.39-1306C>T | ||
| ENST00000560219.2:c.31-1306C>T | ENSP00000452998.1:n.31-1306C>T | |
| NM_001039958.1:c.402C>T | NP_001035047.1:p.His134= | |
| NM_001039958.2:c.402C>T MANE Select | NP_001035047.1:p.His134= |