Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122014C>A , CM000663.2:g.193122014C>A | GRCh38 |
| NC_000001.10:g.193091144C>A , CM000663.1:g.193091144C>A | GRCh37 |
| NC_000001.9:g.191357767C>A | NCBI36 |
| NG_012691.1:g.5057C>A , LRG_507:g.5057C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643006.1:c.-187C>A | ENSP00000496633.1:n.-187C>A | |
| ENST00000649895.1:n.32C>A | ||
| NM_024529.4:c.-187C>A , LRG_507t1:c.-187C>A | NP_078805.3:n.-187C>A | |
| XR_001738350.1:n.1643G>T |