Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46726734G= , CM000673.2:g.46726734G= | GRCh38 |
| NC_000011.9:g.46748284G= , CM000673.1:g.46748284G= | GRCh37 |
| NC_000011.8:g.46704860G= | NCBI36 |
| NG_008953.1:g.12542G= , LRG_551:g.12542G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000506.5:c.1027G= MANE Select | NP_000497.1:p.Glu343= |
| ENST00000311907.10:c.1027G= MANE Select | ENSP00000308541.5:p.Glu343= |
| NM_000506.3:c.1027G= | NP_000497.1:p.Glu343= |
| NM_000506.4:c.1027G= , LRG_551t1:c.1027G= | NP_000497.1:p.Glu343= |
| NM_001311257.1:c.979G= | NP_001298186.1:p.Glu327= |
| NM_001311257.2:c.979G= | NP_001298186.1:p.Glu327= |
| ENST00000311907.9:c.1027G= | ENSP00000308541.5:p.Glu343= |
| ENST00000530231.5:c.1027G= | ENSP00000433907.1:p.Glu343= |
| XR_428840.2:n.1071G= | |
| XR_428840.4:n.1062G= |