Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220836974A>G , CM000663.2:g.220836974A>G | GRCh38 |
| NC_000001.10:g.221010316A>G , CM000663.1:g.221010316A>G | GRCh37 |
| NC_000001.9:g.219076939A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.842+31700A>G | ENSP00000499157.1:n.842+31700A>G | |
| NR_046901.1:n.293-3782T>C |