Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169487823A= , CM000664.2:g.169487823A= | GRCh38 |
| NC_000002.11:g.170344333A= , CM000664.1:g.170344333A= | GRCh37 |
| NC_000002.10:g.170052579A= | NCBI36 |
| NG_011567.1:g.13328A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295240.8:c.226A= MANE Select | ENSP00000295240.3:p.Ile76= | |
| ENST00000295240.7:c.226A= | ENSP00000295240.3:p.Ile76= | |
| ENST00000392663.6:c.226A= | ENSP00000376431.2:p.Ile76= | |
| ENST00000443151.1:c.143-164A= | ENSP00000406182.1:n.143-164A= | |
| ENST00000475571.1:n.62A= | ||
| ENST00000513963.1:c.226A= | ENSP00000424363.1:p.Ile76= | |
| NM_152384.2:c.226A= | NP_689597.1:p.Ile76= | |
| NM_152384.3:c.226A= MANE Select | NP_689597.1:p.Ile76= |