Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52646761A>T , CM000674.2:g.52646761A>T | GRCh38 |
| NC_000012.11:g.53040545A>T , CM000674.1:g.53040545A>T | GRCh37 |
| NC_000012.10:g.51326812A>T | NCBI36 |
| NG_008296.1:g.10415T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.1448T>A MANE Select | ENSP00000310861.3:p.Leu483Gln | |
| ENST00000309680.3:c.1448T>A | ENSP00000310861.3:p.Leu483Gln | |
| NM_000423.2:c.1448T>A | NP_000414.2:p.Leu483Gln | |
| NM_000423.3:c.1448T>A MANE Select | NP_000414.2:p.Leu483Gln |