Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582453A>C , CM000673.2:g.47582453A>C | GRCh38 |
| NC_000011.9:g.47604005A>C , CM000673.1:g.47604005A>C | GRCh37 |
| NC_000011.8:g.47560581A>C | NCBI36 |
| NG_011946.1:g.8444A>C | |
| NG_011946.2:g.8444A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.612A>C MANE Select | ENSP00000263774.4:p.Leu204= | |
| ENST00000531351.2:n.1807A>C | ||
| ENST00000677462.1:n.3086A>C | ||
| ENST00000678975.1:n.2869A>C | ||
| ENST00000263774.8:c.612A>C | ENSP00000263774.4:p.Leu204= | |
| ENST00000524568.1:n.715A>C | ||
| ENST00000525212.1:n.267A>C | ||
| ENST00000525378.5:n.550A>C | ||
| ENST00000527178.1:n.212A>C | ||
| ENST00000533507.5:n.1506A>C | ||
| NM_004551.2:c.612A>C | NP_004542.1:p.Leu204= | |
| NM_004551.3:c.612A>C MANE Select | NP_004542.1:p.Leu204= |