Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270389A>T , CM000668.2:g.31270389A>T | GRCh38 |
| NC_000006.11:g.31238166A>T , CM000668.1:g.31238166A>T | GRCh37 |
| NC_000006.10:g.31346145A>T | NCBI36 |
| NG_029422.2:g.6743T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.716T>A MANE Select | ENSP00000365402.5:p.Leu239Gln | |
| ENST00000376228.9:c.716T>A | ENSP00000365402.5:p.Leu239Gln | |
| ENST00000376237.8:c.*303T>A | ENSP00000365412.4:n.*303T>A | |
| ENST00000383329.7:c.716T>A | ENSP00000372819.3:p.Leu239Gln | |
| ENST00000415537.1:c.664+50T>A | ||
| ENST00000470363.5:n.34T>A | ||
| ENST00000487245.5:n.1075T>A | ||
| ENST00000495835.1:n.905T>A | ||
| NM_002117.5:c.716T>A | NP_002108.4:p.Leu239Gln | |
| NM_002117.6:c.716T>A MANE Select | NP_002108.4:p.Leu239Gln |