Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73455883A>G , CM000666.2:g.73455883A>G | GRCh38 |
| NC_000004.11:g.74321600A>G , CM000666.1:g.74321600A>G | GRCh37 |
| NC_000004.10:g.74540464A>G | NCBI36 |
| NG_023028.1:g.24668A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001134.3:c.*263A>G MANE Select | NP_001125.1:n.*263A>G |
| ENST00000395792.7:c.*263A>G MANE Select | ENSP00000379138.2:n.*263A>G |
| NM_001354717.2:c.*263A>G | NP_001341646.2:n.*263A>G |
| ENST00000395792.6:c.*263A>G | ENSP00000379138.2:n.*263A>G |