Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.47156187A>C , CM000680.2:g.47156187A>C | GRCh38 |
| NC_000018.9:g.44682558A>C , CM000680.1:g.44682558A>C | GRCh37 |
| NC_000018.8:g.42936556A>C | NCBI36 |
| NG_031925.1:g.25188T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256433.6:c.239T>G MANE Select | ENSP00000256433.3:p.Leu80Ter | |
| ENST00000602459.6:c.92-19738T>G | ENSP00000473358.1:n.92-19738T>G | |
| ENST00000256433.4:c.239T>G | ENSP00000256433.3:p.Leu80Ter | |
| ENST00000588705.1:c.239T>G | ENSP00000465194.1:p.Leu80Ter | |
| ENST00000602459.5:c.92-19738T>G | ENSP00000473358.1:n.92-19738T>G | |
| ENST00000602926.5:c.92-19738T>G | ENSP00000473502.1:n.92-19738T>G | |
| NM_016097.4:c.239T>G | NP_057181.1:p.Leu80Ter | |
| NM_016097.5:c.239T>G MANE Select | NP_057181.1:p.Leu80Ter |