Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346237C= , CM000666.2:g.55346237C= | GRCh38 |
| NC_000004.11:g.56212404C= , CM000666.1:g.56212404C= | GRCh37 |
| NC_000004.10:g.55907161C= | NCBI36 |
| NG_028230.1:g.5017C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679707.1:c.-100C= | ENSP00000505713.1:n.-100C= | |
| ENST00000679836.1:c.-100C= | ENSP00000506601.1:n.-100C= | |
| ENST00000264228.8:c.-100C= | ENSP00000264228.4:n.-100C= | |
| NM_024592.4:c.-100C= | NP_078868.1:n.-100C= | |
| XM_005265767.3:c.-100C= | XP_005265824.1:n.-100C= |