Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122007G= , CM000663.2:g.193122007G= | GRCh38 |
| NC_000001.10:g.193091137G= , CM000663.1:g.193091137G= | GRCh37 |
| NC_000001.9:g.191357760G= | NCBI36 |
| NG_012691.1:g.5050G= , LRG_507:g.5050G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643006.1:c.-194G= | ENSP00000496633.1:n.-194G= | |
| ENST00000649895.1:n.25G= | ||
| NM_024529.4:c.-194G= , LRG_507t1:c.-194G= | NP_078805.3:n.-194G= | |
| XR_001738350.1:n.1650C= |