Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23786956C= , CM000684.2:g.23786956C= | GRCh38 |
| NC_000022.10:g.24129143C= , CM000684.1:g.24129143C= | GRCh37 |
| NC_000022.9:g.22459143C= | NCBI36 |
| NG_009303.1:g.4994C= , LRG_520:g.4994C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407422.8:c.-214C= | ENSP00000383984.3:n.-214C= | |
| NM_001007468.2:c.-214C= | NP_001007469.1:n.-214C= | |
| NM_001317946.1:c.-214C= | NP_001304875.1:n.-214C= | |
| NM_001362877.1:c.-214C= | NP_001349806.1:n.-214C= | |
| NM_003073.4:c.-214C= | NP_003064.2:n.-214C= |