Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38866537G>A , CM000684.2:g.38866537G>A | GRCh38 |
| NC_000022.10:g.39262542G>A , CM000684.1:g.39262542G>A | GRCh37 |
| NC_000022.9:g.37592488G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014292.5:c.911C>T MANE Select | NP_055107.3:p.Ala304Val |
| ENST00000407418.8:c.911C>T MANE Select | ENSP00000384490.3:p.Ala304Val |
| NM_001303494.1:c.857C>T | NP_001290423.1:p.Ala286Val |
| NM_001303494.2:c.857C>T | NP_001290423.1:p.Ala286Val |
| NM_014292.4:c.911C>T | NP_055107.3:p.Ala304Val |
| ENST00000216083.6:c.857C>T | ENSP00000216083.6:p.Ala286Val |
| ENST00000407418.7:c.911C>T | ENSP00000384490.3:p.Ala304Val |
| XM_011530024.1:c.911C>T | XP_011528326.1:p.Ala304Val |