Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942336C= , CM000672.2:g.94942336C= | GRCh38 |
| NC_000010.10:g.96702093C= , CM000672.1:g.96702093C= | GRCh37 |
| NC_000010.9:g.96692083C= | NCBI36 |
| NG_008385.1:g.8679C= | |
| NG_008385.2:g.9179C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.476C= MANE Select | ENSP00000260682.6:p.Thr159= | |
| ENST00000643112.1:c.476C= | ENSP00000496202.1:p.Thr159= | |
| ENST00000645207.1:n.629C= | ||
| ENST00000260682.6:c.476C= | ENSP00000260682.6:p.Thr159= | |
| ENST00000461906.1:n.501C= | ||
| ENST00000473496.1:n.247C= | ||
| NM_000771.3:c.476C= | NP_000762.2:p.Thr159= | |
| NM_000771.4:c.476C= MANE Select | NP_000762.2:p.Thr159= |