Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158549A>G , CM000663.2:g.228158549A>G | GRCh38 |
| NC_000001.10:g.228346250A>G , CM000663.1:g.228346250A>G | GRCh37 |
| NC_000001.9:g.226412873A>G | NCBI36 |
| NG_011838.1:g.13698A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366714.3:c.791A>G MANE Select | ENSP00000355675.2:p.Lys264Arg | |
| ENST00000366714.2:c.791A>G | ENSP00000355675.2:p.Lys264Arg | |
| NM_020435.3:c.791A>G | NP_065168.2:p.Lys264Arg | |
| NM_020435.4:c.791A>G MANE Select | NP_065168.2:p.Lys264Arg |