Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346224C>T , CM000666.2:g.55346224C>T | GRCh38 |
| NC_000004.11:g.56212391C>T , CM000666.1:g.56212391C>T | GRCh37 |
| NC_000004.10:g.55907148C>T | NCBI36 |
| NG_028230.1:g.5004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679836.1:c.-113C>T | ENSP00000506601.1:n.-113C>T | |
| ENST00000264228.8:c.-113C>T | ENSP00000264228.4:n.-113C>T | |
| NM_024592.4:c.-113C>T | NP_078868.1:n.-113C>T |