Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637458A= , CM000672.2:g.92637458A= | GRCh38 |
| NC_000010.10:g.94397215A= , CM000672.1:g.94397215A= | GRCh37 |
| NC_000010.9:g.94387195A= | NCBI36 |
| NG_032580.1:g.49391A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2073A= MANE Select | ENSP00000260731.3:p.Glu691= | |
| ENST00000676621.1:c.*591A= | ENSP00000503639.1:n.*591A= | |
| ENST00000676647.1:c.1866A= | ENSP00000503394.1:p.Glu622= | |
| ENST00000676757.1:c.1866A= | ENSP00000504289.1:p.Glu622= | |
| ENST00000677720.1:c.*47A= | ENSP00000504840.1:n.*47A= | |
| ENST00000260731.4:c.2073A= | ENSP00000260731.3:p.Glu691= | |
| NM_004523.3:c.2073A= | NP_004514.2:p.Glu691= | |
| NM_004523.4:c.2073A= MANE Select | NP_004514.2:p.Glu691= |