Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727462A= , CM000672.2:g.87727462A= | GRCh38 |
| NC_000010.10:g.89487219A= , CM000672.1:g.89487219A= | GRCh37 |
| NC_000010.9:g.89477199A= | NCBI36 |
| NG_012150.1:g.72744A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1059A= MANE Select | ENSP00000406157.1:p.Thr353= | |
| ENST00000361175.8:c.1044A= | ENSP00000354436.4:p.Thr348= | |
| ENST00000456849.1:c.1059A= | ENSP00000406157.1:p.Thr353= | |
| NM_001015880.1:c.1059A= | NP_001015880.1:p.Thr353= | |
| NM_004670.3:c.1044A= | NP_004661.2:p.Thr348= | |
| NM_001015880.2:c.1059A= MANE Select | NP_001015880.1:p.Thr353= | |
| NM_004670.4:c.1044A= | NP_004661.2:p.Thr348= |