Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172808C= , CM000683.2:g.43172808C= | GRCh38 |
| NG_009823.1:g.8778C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000394.3:c.*528C= | NP_000385.1:n.*528C= | |
| NM_001363766.1:c.*528C= | NP_001350695.1:n.*528C= |
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172808C= , CM000683.2:g.43172808C= | GRCh38 |
| NG_009823.1:g.8778C= |
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000394.3:c.*528C= | NP_000385.1:n.*528C= | |
| NM_001363766.1:c.*528C= | NP_001350695.1:n.*528C= |