Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732968T>C , CM000663.2:g.115732968T>C | GRCh38 |
| NC_000001.10:g.116275589T>C , CM000663.1:g.116275589T>C | GRCh37 |
| NC_000001.9:g.116077112T>C | NCBI36 |
| NG_008802.1:g.40838A>G , LRG_404:g.40838A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.263A>G | ENSP00000518226.1:p.Lys88Arg | |
| ENST00000261448.6:c.539A>G MANE Select | ENSP00000261448.5:p.Lys180Arg | |
| ENST00000261448.5:c.539A>G | ENSP00000261448.5:p.Lys180Arg | |
| NM_001232.3:c.539A>G , LRG_404t1:c.539A>G | NP_001223.2:p.Lys180Arg | |
| NM_001232.4:c.539A>G MANE Select | NP_001223.2:p.Lys180Arg |