Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584469T>A , CM000679.2:g.41584469T>A | GRCh38 |
| NC_000017.10:g.39740721T>A , CM000679.1:g.39740721T>A | GRCh37 |
| NC_000017.9:g.36994247T>A | NCBI36 |
| NG_008624.1:g.7427A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.609-56A>T MANE Select | ENSP00000167586.6:n.609-56A>T | |
| ENST00000167586.6:c.609-56A>T | ENSP00000167586.6:n.609-56A>T | |
| ENST00000476662.1:n.3A>T | ||
| NM_000526.4:c.609-56A>T | NP_000517.2:n.609-56A>T | |
| NM_000526.5:c.609-56A>T MANE Select | NP_000517.3:n.609-56A>T |