Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42990103T>C , CM000677.2:g.42990103T>C | GRCh38 |
| NC_000015.9:g.43282301T>C , CM000677.1:g.43282301T>C | GRCh37 |
| NC_000015.8:g.41069593T>C | NCBI36 |
| NG_012182.1:g.120986A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.3775A>G MANE Select | NP_777576.1:p.Ile1259Val |
| ENST00000290650.9:c.3775A>G MANE Select | ENSP00000290650.4:p.Ile1259Val |
| NM_174916.2:c.3775A>G | NP_777576.1:p.Ile1259Val |
| ENST00000290650.8:c.3775A>G | ENSP00000290650.4:p.Ile1259Val |
| ENST00000566493.1:n.50A>G |