Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594712C= , CM000679.2:g.56594712C= | GRCh38 |
| NC_000017.10:g.54672073C= , CM000679.1:g.54672073C= | GRCh37 |
| NC_000017.9:g.52027072C= | NCBI36 |
| NG_011958.1:g.6014C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.489C= MANE Select | ENSP00000328181.4:p.Asp163= | |
| ENST00000332822.4:c.489C= | ENSP00000328181.4:p.Asp163= | |
| NM_005450.4:c.489C= | NP_005441.1:p.Asp163= | |
| NM_005450.6:c.489C= MANE Select | NP_005441.1:p.Asp163= |