Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102869116A>G , CM000672.2:g.102869116A>G | GRCh38 |
| NC_000010.10:g.104628873A>G , CM000672.1:g.104628873A>G | GRCh37 |
| NC_000010.9:g.104618863A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_037644.1:n.407-689A>G | |
| ENST00000299353.6:c.*9-689A>G | ENSP00000299353.5:n.*9-689A>G |
| XR_946274.1:n.75+222T>C |