Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583696A= , CM000679.2:g.41583696A= | GRCh38 |
| NC_000017.10:g.39739948A= , CM000679.1:g.39739948A= | GRCh37 |
| NC_000017.9:g.36993474A= | NCBI36 |
| NG_008624.1:g.8200T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.928-20T= MANE Select | ENSP00000167586.6:n.928-20T= | |
| ENST00000167586.6:c.928-20T= | ENSP00000167586.6:n.928-20T= | |
| ENST00000476662.1:n.378-20T= | ||
| NM_000526.4:c.928-20T= | NP_000517.2:n.928-20T= | |
| NM_000526.5:c.928-20T= MANE Select | NP_000517.3:n.928-20T= |