Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91111558C>A , CM000674.2:g.91111558C>A | GRCh38 |
| NC_000012.11:g.91505335C>A , CM000674.1:g.91505335C>A | GRCh37 |
| NC_000012.10:g.90029466C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.4:c.-182G>T | ENSP00000266718.4:n.-182G>T | |
| NM_002345.3:c.-182G>T | NP_002336.1:n.-182G>T |