Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.36205002G>A , CM000685.2:g.36205002G>A | GRCh38 |
| NC_000023.10:g.36223119G>A , CM000685.1:g.36223119G>A | GRCh37 |
| NC_000023.9:g.36133040G>A | NCBI36 |
| NG_016381.2:g.290269G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001304548.2:c.6709G>A MANE Select | NP_001291477.1:p.Val2237Ile |
| ENST00000378653.8:c.6709G>A MANE Select | ENSP00000367922.5:p.Val2237Ile |
| NM_001304548.1:c.6709G>A | NP_001291477.1:p.Val2237Ile |
| ENST00000378653.7:c.6709G>A | ENSP00000367922.5:p.Val2237Ile |
| XM_017029452.1:c.6709G>A | XP_016884941.1:p.Val2237Ile |