Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193121987G= , CM000663.2:g.193121987G= | GRCh38 |
| NC_000001.10:g.193091117G= , CM000663.1:g.193091117G= | GRCh37 |
| NC_000001.9:g.191357740G= | NCBI36 |
| NG_012691.1:g.5030G= , LRG_507:g.5030G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649895.1:n.5G= | ||
| NM_024529.4:c.-214G= , LRG_507t1:c.-214G= | NP_078805.3:n.-214G= | |
| XR_001738350.1:n.1670C= |