Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108875018C>A , CM000663.2:g.108875018C>A | GRCh38 |
| NC_000001.10:g.109417640C>A , CM000663.1:g.109417640C>A | GRCh37 |
| NC_000001.9:g.109219163C>A | NCBI36 |
| NG_028108.1:g.3038C>A | |
| NG_028108.2:g.4669C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357393.6:c.1-25442G>T | ENSP00000349968.6:n.1-25442G>T | |
| ENST00000357393.5:c.115-25442G>T | ENSP00000349968.5:n.115-25442G>T | |
| XR_001738178.1:n.103+122G>T |