Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595066C>A , CM000679.2:g.56595066C>A | GRCh38 |
| NC_000017.10:g.54672427C>A , CM000679.1:g.54672427C>A | GRCh37 |
| NC_000017.9:g.52027426C>A | NCBI36 |
| NG_011958.1:g.6368C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*144C>A MANE Select | ENSP00000328181.4:n.*144C>A | |
| ENST00000332822.4:c.*144C>A | ENSP00000328181.4:n.*144C>A | |
| NM_005450.4:c.*144C>A | NP_005441.1:n.*144C>A | |
| NM_005450.6:c.*144C>A MANE Select | NP_005441.1:n.*144C>A |