Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31476659G= , CM000682.2:g.31476659G= | GRCh38 |
| NC_000020.10:g.30064462G= , CM000682.1:g.30064462G= | GRCh37 |
| NC_000020.9:g.29528123G= | NCBI36 |
| NG_046939.1:g.6372G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014012.6:c.214G= (REM1) MANE Select | NP_054731.2:p.Asp72= |
| ENST00000201979.3:c.214G= (REM1) MANE Select | ENSP00000201979.2:p.Asp72= |
| NM_014012.5:c.214G= (REM1) | NP_054731.2:p.Asp72= |
| ENST00000201979.2:c.214G= (REM1) | ENSP00000201979.2:p.Asp72= |
| ENST00000481595.1:n.99C= (DEFB124) | |
| XM_005260404.1:c.214G= (REM1) | XP_005260461.1:p.Asp72= |
| XM_011528795.1:c.214G= (REM1) | XP_011527097.1:p.Asp72= |
| XM_017027833.1:c.214G= (REM1) | XP_016883322.1:p.Asp72= |