Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67583596G>A , CM000673.2:g.67583596G>A | GRCh38 |
| NC_000011.9:g.67351067G>A , CM000673.1:g.67351067G>A | GRCh37 |
| NC_000011.8:g.67107643G>A | NCBI36 |
| NG_012075.1:g.5002G>A , LRG_723:g.5002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398606.7:c.-248G>A | ENSP00000381607.3:n.-248G>A | |
| NM_000852.3:c.-248G>A , LRG_723t1:c.-248G>A | NP_000843.1:n.-248G>A |