Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594955T= , CM000679.2:g.56594955T= | GRCh38 |
| NC_000017.10:g.54672316T= , CM000679.1:g.54672316T= | GRCh37 |
| NC_000017.9:g.52027315T= | NCBI36 |
| NG_011958.1:g.6257T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*33T= MANE Select | ENSP00000328181.4:n.*33T= | |
| ENST00000332822.4:c.*33T= | ENSP00000328181.4:n.*33T= | |
| NM_005450.4:c.*33T= | NP_005441.1:n.*33T= | |
| NM_005450.6:c.*33T= MANE Select | NP_005441.1:n.*33T= |