Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168683G= , CM000673.2:g.118168683G= | GRCh38 |
| NC_000011.9:g.118039398G= , CM000673.1:g.118039398G= | GRCh37 |
| NC_000011.8:g.117544608G= | NCBI36 |
| NG_042217.1:g.12940C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.139C= MANE Select | ENSP00000278947.5:p.Arg47= | |
| ENST00000658882.1:c.243C= | ENSP00000499572.1:p.Pro81= | |
| ENST00000665446.1:n.375C= | ||
| ENST00000669850.1:n.381C= | ||
| ENST00000278947.5:c.139C= | ENSP00000278947.5:p.Arg47= | |
| NM_004588.4:c.139C= | NP_004579.1:p.Arg47= | |
| NM_004588.5:c.139C= MANE Select | NP_004579.1:p.Arg47= |