Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.35301275C= , CM000683.2:g.35301275C= | GRCh38 |
| NC_000021.8:g.36673573C= , CM000683.1:g.36673573C= | GRCh37 |
| NC_000021.7:g.35595443C= | NCBI36 |
| NG_011402.2:g.688436G= , LRG_482:g.688436G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000475045.6:c.-197+160686G= | ENSP00000477072.1:n.-197+160686G= |