Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10198333C>G , CM000679.2:g.10198333C>G | GRCh38 |
| NC_000017.10:g.10101650C>G , CM000679.1:g.10101650C>G | GRCh37 |
| NC_000017.9:g.10042375C>G | NCBI36 |
| NG_029502.1:g.5219G>C | |
| NG_029502.2:g.5219G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_201433.2:c.58G>C MANE Select | NP_958839.1:p.Gly20Arg |
| ENST00000432992.7:c.58G>C MANE Select | ENSP00000407552.2:p.Gly20Arg |
| NM_201433.1:c.58G>C | NP_958839.1:p.Gly20Arg |
| ENST00000432992.6:c.58G>C | ENSP00000407552.2:p.Gly20Arg |