Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7901179T>C , CM000663.2:g.7901179T>C | GRCh38 |
| NC_000001.10:g.7961239T>C , CM000663.1:g.7961239T>C | GRCh37 |
| NC_000001.9:g.7883826T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011540537.1:c.-75+12002A>G | XP_011538839.1:n.-75+12002A>G | |
| XM_011540537.2:c.-75+12002A>G | XP_011538839.1:n.-75+12002A>G | |
| XM_017000116.1:c.-75+12002A>G | XP_016855605.1:n.-75+12002A>G | |
| XM_017000119.1:c.-75+12002A>G | XP_016855608.1:n.-75+12002A>G |