Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595024C>G , CM000679.2:g.56595024C>G | GRCh38 |
| NC_000017.10:g.54672385C>G , CM000679.1:g.54672385C>G | GRCh37 |
| NC_000017.9:g.52027384C>G | NCBI36 |
| NG_011958.1:g.6326C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*102C>G MANE Select | ENSP00000328181.4:n.*102C>G | |
| ENST00000332822.4:c.*102C>G | ENSP00000328181.4:n.*102C>G | |
| NM_005450.4:c.*102C>G | NP_005441.1:n.*102C>G | |
| NM_005450.6:c.*102C>G MANE Select | NP_005441.1:n.*102C>G |