Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332170T= , CM000673.2:g.47332170T= | GRCh38 |
| NC_000011.9:g.47353721T= , CM000673.1:g.47353721T= | GRCh37 |
| NC_000011.8:g.47310297T= | NCBI36 |
| NG_007667.1:g.25533A= , LRG_386:g.25533A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000256.3:c.3716A= , LRG_386t1:c.3716A= MANE Select | NP_000247.2:p.Glu1239= |
| ENST00000545968.6:c.3716A= MANE Select | ENSP00000442795.1:p.Glu1239= |
| ENST00000256993.8:c.3716A= | ENSP00000256993.5:p.Glu1239= |
| ENST00000399249.6:c.3716A= | ENSP00000382193.2:p.Glu1239= |
| ENST00000545968.5:c.3716A= | ENSP00000442795.1:p.Glu1239= |
| XM_011520117.1:c.3698A= | XP_011518419.1:p.Glu1233= |
| XM_011520118.1:c.3635A= | XP_011518420.1:p.Glu1212= |