Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586864C= , CM000679.2:g.41586864C= | GRCh38 |
| NC_000017.10:g.39743116C= , CM000679.1:g.39743116C= | GRCh37 |
| NC_000017.9:g.36996642C= | NCBI36 |
| NG_008624.1:g.5032G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.-30G= MANE Select | ENSP00000167586.6:n.-30G= | |
| ENST00000167586.6:c.-30G= | ENSP00000167586.6:n.-30G= | |
| NM_000526.4:c.-30G= | NP_000517.2:n.-30G= | |
| NM_000526.5:c.-30G= MANE Select | NP_000517.3:n.-30G= |