Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584330G= , CM000679.2:g.41584330G= | GRCh38 |
| NC_000017.10:g.39740582G= , CM000679.1:g.39740582G= | GRCh37 |
| NC_000017.9:g.36994108G= | NCBI36 |
| NG_008624.1:g.7566C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.692C= MANE Select | ENSP00000167586.6:p.Ala231= | |
| ENST00000167586.6:c.692C= | ENSP00000167586.6:p.Ala231= | |
| ENST00000476662.1:n.142C= | ||
| NM_000526.4:c.692C= | NP_000517.2:p.Ala231= | |
| NM_000526.5:c.692C= MANE Select | NP_000517.3:p.Ala231= |