Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168739C>G , CM000673.2:g.118168739C>G | GRCh38 |
| NC_000011.9:g.118039454C>G , CM000673.1:g.118039454C>G | GRCh37 |
| NC_000011.8:g.117544664C>G | NCBI36 |
| NG_042217.1:g.12884G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004588.5:c.83G>C MANE Select | NP_004579.1:p.Arg28Pro |
| ENST00000278947.6:c.83G>C MANE Select | ENSP00000278947.5:p.Arg28Pro |
| NM_004588.4:c.83G>C | NP_004579.1:p.Arg28Pro |
| ENST00000278947.5:c.83G>C | ENSP00000278947.5:p.Arg28Pro |
| ENST00000658882.1:c.187G>C | ENSP00000499572.1:p.Gly63Arg |
| ENST00000665446.1:n.319G>C | |
| ENST00000669850.1:n.325G>C |