Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118152896C>A , CM000673.2:g.118152896C>A | GRCh38 |
| NC_000011.9:g.118023611C>A , CM000673.1:g.118023611C>A | GRCh37 |
| NC_000011.8:g.117528821C>A | NCBI36 |
| NG_011710.1:g.5020G>T , LRG_330:g.5020G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142348.1:c.-223G>T | NP_001135820.1:n.-223G>T |
| NM_174934.3:c.-223G>T , LRG_330t1:c.-223G>T | NP_777594.1:n.-223G>T |