Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.35301327A>C , CM000683.2:g.35301327A>C | GRCh38 |
| NC_000021.8:g.36673625A>C , CM000683.1:g.36673625A>C | GRCh37 |
| NC_000021.7:g.35595495A>C | NCBI36 |
| NG_011402.2:g.688384T>G , LRG_482:g.688384T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475045.6:c.-197+160634T>G | ENSP00000477072.1:n.-197+160634T>G |