Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126821125C>T , CM000667.2:g.126821125C>T | GRCh38 |
| NC_000005.9:g.126156817C>T , CM000667.1:g.126156817C>T | GRCh37 |
| NC_000005.8:g.126184716C>T | NCBI36 |
| NG_008360.2:g.48985C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005573.4:c.1376C>T MANE Select | NP_005564.1:p.Thr459Ile |
| ENST00000261366.10:c.1376C>T MANE Select | ENSP00000261366.5:p.Thr459Ile |
| NM_001198557.1:c.746C>T | NP_001185486.1:p.Thr249Ile |
| NM_001198557.2:c.746C>T | NP_001185486.1:p.Thr249Ile |
| NM_005573.3:c.1376C>T | NP_005564.1:p.Thr459Ile |
| NR_134488.1:n.2340C>T | |
| ENST00000261366.9:c.1376C>T | ENSP00000261366.5:p.Thr459Ile |
| ENST00000460265.5:c.*464C>T | ENSP00000486528.1:n.*464C>T |
| ENST00000504788.5:n.1109C>T | |
| XR_948250.1:n.1818C>T |