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