Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91111552T>C , CM000674.2:g.91111552T>C | GRCh38 |
| NC_000012.11:g.91505329T>C , CM000674.1:g.91505329T>C | GRCh37 |
| NC_000012.10:g.90029460T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.4:c.-176A>G | ENSP00000266718.4:n.-176A>G | |
| NM_002345.3:c.-176A>G | NP_002336.1:n.-176A>G |