Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87709311C= , CM000672.2:g.87709311C= | GRCh38 |
| NC_000010.10:g.89469068C= , CM000672.1:g.89469068C= | GRCh37 |
| NC_000010.9:g.89459048C= | NCBI36 |
| NG_012150.1:g.54593C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001015880.2:c.143C= MANE Select | NP_001015880.1:p.Thr48= |
| ENST00000456849.2:c.143C= MANE Select | ENSP00000406157.1:p.Thr48= |
| NM_001015880.1:c.143C= | NP_001015880.1:p.Thr48= |
| NM_004670.3:c.143C= | NP_004661.2:p.Thr48= |
| NM_004670.4:c.143C= | NP_004661.2:p.Thr48= |
| ENST00000361175.8:c.143C= | ENSP00000354436.4:p.Thr48= |
| ENST00000456849.1:c.143C= | ENSP00000406157.1:p.Thr48= |
| ENST00000465996.5:n.165C= | |
| ENST00000482258.1:n.186C= |