Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220878366T>G , CM000663.2:g.220878366T>G | GRCh38 |
| NC_000001.10:g.221051708T>G , CM000663.1:g.221051708T>G | GRCh37 |
| NC_000001.9:g.219118331T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.843-2828T>G | ENSP00000499157.1:n.843-2828T>G | |
| NR_046901.1:n.292+1483A>C | ||
| XM_011510307.1:c.687+6A>C | XP_011508609.1:n.687+6A>C |