Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168739C>T , CM000673.2:g.118168739C>T | GRCh38 |
| NC_000011.9:g.118039454C>T , CM000673.1:g.118039454C>T | GRCh37 |
| NC_000011.8:g.117544664C>T | NCBI36 |
| NG_042217.1:g.12884G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004588.5:c.83G>A MANE Select | NP_004579.1:p.Arg28Gln |
| ENST00000278947.6:c.83G>A MANE Select | ENSP00000278947.5:p.Arg28Gln |
| NM_004588.4:c.83G>A | NP_004579.1:p.Arg28Gln |
| ENST00000278947.5:c.83G>A | ENSP00000278947.5:p.Arg28Gln |
| ENST00000658882.1:c.187G>A | ENSP00000499572.1:p.Gly63Arg |
| ENST00000665446.1:n.319G>A | |
| ENST00000669850.1:n.325G>A |