Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191029415T>G , CM000664.2:g.191029415T>G | GRCh38 |
| NC_000002.11:g.191894141T>G , CM000664.1:g.191894141T>G | GRCh37 |
| NC_000002.10:g.191602386T>G | NCBI36 |
| NG_012852.1:g.126785A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_136318.1:n.31-1470T>G | |
| XR_923710.1:n.906-1470T>G | |
| XR_923711.1:n.426-1470T>G |