Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47325310G>A , CM000672.2:g.47325310G>A | GRCh38 |
| NC_000010.10:g.48414052C>T , CM000672.1:g.48414052C>T | GRCh37 |
| NC_000010.9:g.48034058C>T | NCBI36 |
| NG_033916.1:g.7821G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016204.4:c.816G>A MANE Select | NP_057288.1:p.Leu272= |
| ENST00000581492.3:c.816G>A MANE Select | ENSP00000463051.1:p.Leu272= |
| NM_016204.2:c.816G>A | NP_057288.1:p.Leu272= |
| NM_016204.3:c.816G>A | NP_057288.1:p.Leu272= |
| ENST00000581492.2:c.816G>A | ENSP00000463051.1:p.Leu272= |
| XM_006717761.2:c.816G>A | XP_006717824.1:p.Leu272= |