Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55425420G>A , CM000669.2:g.55425420G>A | GRCh38 |
| NC_000007.13:g.55493113G>A , CM000669.1:g.55493113G>A | GRCh37 |
| NC_000007.12:g.55460607G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254770.3:c.1175G>A MANE Select | ENSP00000254770.2:p.Arg392Gln | |
| ENST00000254770.2:c.1175G>A | ENSP00000254770.2:p.Arg392Gln | |
| ENST00000452107.6:c.1277G>A | ||
| ENST00000476479.1:n.393G>A | ||
| NM_018697.3:c.1175G>A | NP_061167.1:p.Arg392Gln | |
| XM_011515448.1:c.914G>A | XP_011513750.1:p.Arg305Gln | |
| NM_018697.4:c.1175G>A MANE Select | NP_061167.1:p.Arg392Gln |