Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85473799A>G , CM000670.2:g.85473799A>G | GRCh38 |
| NC_000008.10:g.86386028A>G , CM000670.1:g.86386028A>G | GRCh37 |
| NC_000008.9:g.86573280A>G | NCBI36 |
| NG_007287.1:g.14783A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000067.3:c.339A>G MANE Select | NP_000058.1:p.Lys113= |
| ENST00000285379.10:c.339A>G MANE Select | ENSP00000285379.4:p.Lys113= |
| NM_000067.2:c.339A>G | NP_000058.1:p.Lys113= |
| NM_001293675.1:c.49-525A>G | NP_001280604.1:n.49-525A>G |
| NM_001293675.2:c.49-525A>G | NP_001280604.1:n.49-525A>G |
| ENST00000285379.9:c.339A>G | ENSP00000285379.4:p.Lys113= |
| ENST00000518231.1:n.410A>G | |
| ENST00000520127.5:c.233-525A>G | ENSP00000428443.1:n.233-525A>G |
| ENST00000520996.5:n.418A>G | |
| ENST00000522742.1:c.*113A>G | ENSP00000428947.1:n.*113A>G |