Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422246C>A , CM000663.2:g.119422246C>A | GRCh38 |
| NC_000001.10:g.119964869C>A , CM000663.1:g.119964869C>A | GRCh37 |
| NC_000001.9:g.119766392C>A | NCBI36 |
| NG_013349.1:g.12316C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000198.4:c.745C>A MANE Select | NP_000189.1:p.Arg249= |
| ENST00000369416.4:c.745C>A MANE Select | ENSP00000358424.3:p.Arg249= |
| NM_000198.3:c.745C>A | NP_000189.1:p.Arg249= |
| NM_001166120.1:c.745C>A | NP_001159592.1:p.Arg249= |
| NM_001166120.2:c.745C>A | NP_001159592.1:p.Arg249= |
| ENST00000369416.3:c.745C>A | ENSP00000358424.3:p.Arg249= |
| ENST00000543831.5:c.745C>A | ENSP00000445122.1:p.Arg249= |