Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119336009A>G , CM000673.2:g.119336009A>G | GRCh38 |
| NC_000011.9:g.119206719A>G , CM000673.1:g.119206719A>G | GRCh37 |
| NC_000011.8:g.118711929A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311413.5:c.887A>G MANE Select | ENSP00000312439.4:p.Gln296Arg | |
| ENST00000311413.4:c.887A>G | ENSP00000312439.4:p.Gln296Arg | |
| NM_032015.4:c.887A>G | NP_114404.1:p.Gln296Arg | |
| NM_032015.5:c.887A>G MANE Select | NP_114404.1:p.Gln296Arg |