Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584559G= , CM000679.2:g.41584559G= | GRCh38 |
| NC_000017.10:g.39740811G= , CM000679.1:g.39740811G= | GRCh37 |
| NC_000017.9:g.36994337G= | NCBI36 |
| NG_008624.1:g.7337C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.609-146C= MANE Select | ENSP00000167586.6:n.609-146C= | |
| ENST00000167586.6:c.609-146C= | ENSP00000167586.6:n.609-146C= | |
| NM_000526.4:c.609-146C= | NP_000517.2:n.609-146C= | |
| NM_000526.5:c.609-146C= MANE Select | NP_000517.3:n.609-146C= |