Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122013T>C , CM000663.2:g.193122013T>C | GRCh38 |
| NC_000001.10:g.193091143T>C , CM000663.1:g.193091143T>C | GRCh37 |
| NC_000001.9:g.191357766T>C | NCBI36 |
| NG_012691.1:g.5056T>C , LRG_507:g.5056T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643006.1:c.-188T>C | ENSP00000496633.1:n.-188T>C | |
| ENST00000649895.1:n.31T>C | ||
| NM_024529.4:c.-188T>C , LRG_507t1:c.-188T>C | NP_078805.3:n.-188T>C | |
| XR_001738350.1:n.1644A>G |