Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128254572C= , CM000669.2:g.128254572C= | GRCh38 |
| NC_000007.13:g.127894625C= , CM000669.1:g.127894625C= | GRCh37 |
| NC_000007.12:g.127681861C= | NCBI36 |
| NG_007450.1:g.18295C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000230.3:c.313C= MANE Select | NP_000221.1:p.Arg105= |
| ENST00000308868.5:c.313C= MANE Select | ENSP00000312652.4:p.Arg105= |
| NM_000230.2:c.313C= | NP_000221.1:p.Arg105= |
| ENST00000308868.4:c.313C= | ENSP00000312652.4:p.Arg105= |
| XM_005250340.3:c.310C= | XP_005250397.1:p.Arg104= |
| XM_005250340.5:c.310C= | XP_005250397.1:p.Arg104= |