Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6625353C>T , CM000673.2:g.6625353C>T | GRCh38 |
| NC_000011.9:g.6646584C>T , CM000673.1:g.6646584C>T | GRCh37 |
| NC_000011.8:g.6603160C>T | NCBI36 |
| NG_033858.1:g.35497G>A | |
| NG_033858.2:g.35497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299441.5:c.6991G>A MANE Select | ENSP00000299441.3:p.Val2331Ile | |
| ENST00000299441.4:c.6991G>A | ENSP00000299441.3:p.Val2331Ile | |
| NM_003737.3:c.6991G>A | NP_003728.1:p.Val2331Ile | |
| NM_003737.4:c.6991G>A MANE Select | NP_003728.1:p.Val2331Ile |