Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.35305389G>C , CM000683.2:g.35305389G>C | GRCh38 |
| NC_000021.8:g.36677687G>C , CM000683.1:g.36677687G>C | GRCh37 |
| NC_000021.7:g.35599557G>C | NCBI36 |
| NG_011402.2:g.684322C>G , LRG_482:g.684322C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000475045.6:c.-197+156572C>G | ENSP00000477072.1:n.-197+156572C>G |