Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583126T>G , CM000679.2:g.41583126T>G | GRCh38 |
| NC_000017.10:g.39739378T>G , CM000679.1:g.39739378T>G | GRCh37 |
| NC_000017.9:g.36992904T>G | NCBI36 |
| NG_008624.1:g.8770A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1289A>C MANE Select | ENSP00000167586.6:p.Gln430Pro | |
| ENST00000167586.6:c.1289A>C | ENSP00000167586.6:p.Gln430Pro | |
| ENST00000441550.2:n.236A>C | ||
| NM_000526.4:c.1289A>C | NP_000517.2:p.Gln430Pro | |
| NM_000526.5:c.1289A>C MANE Select | NP_000517.3:p.Gln430Pro |