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