Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838844A= , CM000664.2:g.182838844A= | GRCh38 |
| NC_000002.11:g.183703572A= , CM000664.1:g.183703572A= | GRCh37 |
| NC_000002.10:g.183411817A= | NCBI36 |
| NG_017197.1:g.32927T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.593-231T= MANE Select | ENSP00000295113.4:n.593-231T= | |
| ENST00000295113.4:c.593-231T= | ENSP00000295113.4:n.593-231T= | |
| NM_001463.3:c.593-231T= | NP_001454.2:n.593-231T= | |
| NM_001463.4:c.593-231T= MANE Select | NP_001454.2:n.593-231T= |