Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119336309G>A , CM000673.2:g.119336309G>A | GRCh38 |
| NC_000011.9:g.119207019G>A , CM000673.1:g.119207019G>A | GRCh37 |
| NC_000011.8:g.118712229G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311413.5:c.1187G>A MANE Select | ENSP00000312439.4:p.Arg396Gln | |
| ENST00000311413.4:c.1187G>A | ENSP00000312439.4:p.Arg396Gln | |
| NM_032015.4:c.1187G>A | NP_114404.1:p.Arg396Gln | |
| NM_032015.5:c.1187G>A MANE Select | NP_114404.1:p.Arg396Gln |