Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58197012C>T , CM000679.2:g.58197012C>T | GRCh38 |
| NC_000017.10:g.56274373C>T , CM000679.1:g.56274373C>T | GRCh37 |
| NC_000017.9:g.53629372C>T | NCBI36 |
| NG_013020.1:g.9285C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000502.6:c.875C>T MANE Select | NP_000493.1:p.Pro292Leu |
| ENST00000225371.6:c.875C>T MANE Select | ENSP00000225371.5:p.Pro292Leu |
| NM_000502.4:c.875C>T | NP_000493.1:p.Pro292Leu |
| NM_000502.5:c.875C>T | NP_000493.1:p.Pro292Leu |
| ENST00000225371.5:c.875C>T | ENSP00000225371.5:p.Pro292Leu |