Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6342117G>C , CM000674.2:g.6342117G>C | GRCh38 |
| NC_000012.11:g.6451283G>C , CM000674.1:g.6451283G>C | GRCh37 |
| NC_000012.10:g.6321544G>C | NCBI36 |
| NG_007506.1:g.4979C>G , LRG_193:g.4979C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001065.3:c.-303C>G , LRG_193t1:c.-303C>G | NP_001056.1:n.-303C>G | |
| NM_001346091.1:c.-473C>G | NP_001333020.1:n.-473C>G | |
| NM_001346092.1:c.-880C>G | NP_001333021.1:n.-880C>G | |
| NR_144351.1:n.1C>G |