Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652060A= , CM000674.2:g.52652060A= | GRCh38 |
| NC_000012.11:g.53045844A= , CM000674.1:g.53045844A= | GRCh37 |
| NC_000012.10:g.51332111A= | NCBI36 |
| NG_008296.1:g.5116T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.83T= MANE Select | ENSP00000310861.3:p.Val28= | |
| ENST00000309680.3:c.83T= | ENSP00000310861.3:p.Val28= | |
| NM_000423.2:c.83T= | NP_000414.2:p.Val28= | |
| NM_000423.3:c.83T= MANE Select | NP_000414.2:p.Val28= |