Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595030A= , CM000679.2:g.56595030A= | GRCh38 |
| NC_000017.10:g.54672391A= , CM000679.1:g.54672391A= | GRCh37 |
| NC_000017.9:g.52027390A= | NCBI36 |
| NG_011958.1:g.6332A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*108A= MANE Select | ENSP00000328181.4:n.*108A= | |
| ENST00000332822.4:c.*108A= | ENSP00000328181.4:n.*108A= | |
| NM_005450.4:c.*108A= | NP_005441.1:n.*108A= | |
| NM_005450.6:c.*108A= MANE Select | NP_005441.1:n.*108A= |