Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6342115G>A , CM000674.2:g.6342115G>A | GRCh38 |
| NC_000012.11:g.6451281G>A , CM000674.1:g.6451281G>A | GRCh37 |
| NC_000012.10:g.6321542G>A | NCBI36 |
| NG_007506.1:g.4981C>T , LRG_193:g.4981C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001065.3:c.-301C>T , LRG_193t1:c.-301C>T | NP_001056.1:n.-301C>T | |
| NM_001346091.1:c.-471C>T | NP_001333020.1:n.-471C>T | |
| NM_001346092.1:c.-878C>T | NP_001333021.1:n.-878C>T | |
| NR_144351.1:n.3C>T |