Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122005G>A , CM000663.2:g.193122005G>A | GRCh38 |
| NC_000001.10:g.193091135G>A , CM000663.1:g.193091135G>A | GRCh37 |
| NC_000001.9:g.191357758G>A | NCBI36 |
| NG_012691.1:g.5048G>A , LRG_507:g.5048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643006.1:c.-196G>A | ENSP00000496633.1:n.-196G>A | |
| ENST00000649895.1:n.23G>A | ||
| NM_024529.4:c.-196G>A , LRG_507t1:c.-196G>A | NP_078805.3:n.-196G>A | |
| XR_001738350.1:n.1652C>T |