Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120725739G>A , CM000674.2:g.120725739G>A | GRCh38 |
| NC_000012.11:g.121163542G>A , CM000674.1:g.121163542G>A | GRCh37 |
| NC_000012.10:g.119647925G>A | NCBI36 |
| NG_007991.1:g.4972G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000017.3:c.-147G>A | NP_000008.1:n.-147G>A |
| NM_001302554.1:c.-147G>A | NP_001289483.1:n.-147G>A |
| ENST00000242592.8:c.-147G>A | ENSP00000242592.4:n.-147G>A |