Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69810366A>C , CM000673.2:g.69810366A>C | GRCh38 |
| NC_000011.9:g.69625134A>C , CM000673.1:g.69625134A>C | GRCh37 |
| NC_000011.8:g.69334315A>C | NCBI36 |
| NG_009016.1:g.14059T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334134.4:c.659T>G MANE Select | ENSP00000334122.2:p.Leu220Arg | |
| ENST00000646078.1:n.506T>G | ||
| ENST00000334134.2:c.659T>G | ENSP00000334122.2:p.Leu220Arg | |
| NM_005247.2:c.659T>G | NP_005238.1:p.Leu220Arg | |
| NM_005247.3:c.659T>G | NP_005238.1:p.Leu220Arg | |
| NM_005247.4:c.659T>G MANE Select | NP_005238.1:p.Leu220Arg |