Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981766C>G , CM000674.2:g.48981766C>G | GRCh38 |
| NC_000012.11:g.49375549C>G , CM000674.1:g.49375549C>G | GRCh37 |
| NC_000012.10:g.47661816C>G | NCBI36 |
| NG_033141.1:g.8314C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*126C>G MANE Select | ENSP00000293549.3:n.*126C>G | |
| NM_005430.3:c.*126C>G | NP_005421.1:n.*126C>G | |
| NM_005430.4:c.*126C>G MANE Select | NP_005421.1:n.*126C>G |