Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168740G>T , CM000673.2:g.118168740G>T | GRCh38 |
| NC_000011.9:g.118039455G>T , CM000673.1:g.118039455G>T | GRCh37 |
| NC_000011.8:g.117544665G>T | NCBI36 |
| NG_042217.1:g.12883C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004588.5:c.82C>A MANE Select | NP_004579.1:p.Arg28= |
| ENST00000278947.6:c.82C>A MANE Select | ENSP00000278947.5:p.Arg28= |
| NM_004588.4:c.82C>A | NP_004579.1:p.Arg28= |
| ENST00000278947.5:c.82C>A | ENSP00000278947.5:p.Arg28= |
| ENST00000658882.1:c.186C>A | ENSP00000499572.1:p.Asp62Glu |
| ENST00000665446.1:n.318C>A | |
| ENST00000669850.1:n.324C>A |