Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86511464C>A , CM000678.2:g.86511464C>A | GRCh38 |
| NC_000016.9:g.86545070C>A , CM000678.1:g.86545070C>A | GRCh37 |
| NC_000016.8:g.85102571C>A | NCBI36 |
| NG_016273.1:g.5938C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.895C>A MANE Select | NP_001442.2:p.Pro299Thr |
| ENST00000262426.6:c.895C>A MANE Select | ENSP00000262426.4:p.Pro299Thr |
| NM_001451.2:c.895C>A | NP_001442.2:p.Pro299Thr |
| ENST00000262426.5:c.895C>A | ENSP00000262426.4:p.Pro299Thr |