Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727478C>A , CM000672.2:g.87727478C>A | GRCh38 |
| NC_000010.10:g.89487235C>A , CM000672.1:g.89487235C>A | GRCh37 |
| NC_000010.9:g.89477215C>A | NCBI36 |
| NG_012150.1:g.72760C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1075C>A MANE Select | ENSP00000406157.1:p.Pro359Thr | |
| ENST00000361175.8:c.1060C>A | ENSP00000354436.4:p.Pro354Thr | |
| ENST00000456849.1:c.1075C>A | ENSP00000406157.1:p.Pro359Thr | |
| NM_001015880.1:c.1075C>A | NP_001015880.1:p.Pro359Thr | |
| NM_004670.3:c.1060C>A | NP_004661.2:p.Pro354Thr | |
| NM_001015880.2:c.1075C>A MANE Select | NP_001015880.1:p.Pro359Thr | |
| NM_004670.4:c.1060C>A | NP_004661.2:p.Pro354Thr |