Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136687459G>T , CM000671.2:g.136687459G>T | GRCh38 |
| NC_000009.11:g.139581911G>T , CM000671.1:g.139581911G>T | GRCh37 |
| NC_000009.10:g.138701732G>T | NCBI36 |
| NG_008090.1:g.5001C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001012727.1:c.-102C>A | NP_001012745.1:n.-102C>A | |
| NM_006412.3:c.-102C>A | NP_006403.2:n.-102C>A |