Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.107169575G>A , CM000672.2:g.107169575G>A | GRCh38 |
| NC_000010.10:g.108929333G>A , CM000672.1:g.108929333G>A | GRCh37 |
| NC_000010.9:g.108919323G>A | NCBI36 |
| NG_029120.1:g.134C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011539204.1:c.3+11489C>T | XP_011537506.1:n.3+11489C>T |
| XM_017015617.1:c.3+11489C>T | XP_016871106.1:n.3+11489C>T |