Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66214639C>G , CM000679.2:g.66214639C>G | GRCh38 |
| NC_000017.10:g.64210757C>G , CM000679.1:g.64210757C>G | GRCh37 |
| NC_000017.9:g.61641219C>G | NCBI36 |
| NG_012045.1:g.19800G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.796G>C MANE Select | ENSP00000205948.6:p.Val266Leu | |
| ENST00000205948.10:c.796G>C | ENSP00000205948.6:p.Val266Leu | |
| ENST00000585162.1:c.257+2149G>C | ||
| NM_000042.2:c.796G>C | NP_000033.2:p.Val266Leu | |
| NM_000042.3:c.796G>C MANE Select | NP_000033.2:p.Val266Leu |