Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48530622G>T , CM000679.2:g.48530622G>T | GRCh38 |
| NC_000017.10:g.46607984G>T , CM000679.1:g.46607984G>T | GRCh37 |
| NC_000017.9:g.43962983G>T | NCBI36 |
| NG_032884.1:g.5289C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002144.4:c.283C>A MANE Select | NP_002135.2:p.Pro95Thr |
| ENST00000239174.7:c.283C>A MANE Select | ENSP00000355140.5:p.Pro95Thr |
| NM_002144.3:c.283C>A | NP_002135.2:p.Pro95Thr |
| ENST00000239174.6:c.283C>A | ENSP00000355140.5:p.Pro95Thr |
| ENST00000577092.1:c.283C>A | ENSP00000459066.1:p.Pro95Thr |