Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.12885590A>G , CM000685.2:g.12885590A>G | GRCh38 |
| NC_000023.10:g.12903709A>G , CM000685.1:g.12903709A>G | GRCh37 |
| NC_000023.9:g.12813630A>G | NCBI36 |
| NG_012569.1:g.23508A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016562.4:c.82A>G MANE Select | NP_057646.1:p.Arg28Gly |
| ENST00000380659.4:c.82A>G MANE Select | ENSP00000370034.3:p.Arg28Gly |
| NM_016562.3:c.82A>G | NP_057646.1:p.Arg28Gly |
| ENST00000380659.3:c.82A>G | ENSP00000370034.3:p.Arg28Gly |