Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7901182A>G , CM000663.2:g.7901182A>G | GRCh38 |
| NC_000001.10:g.7961242A>G , CM000663.1:g.7961242A>G | GRCh37 |
| NC_000001.9:g.7883829A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011540537.1:c.-75+11999T>C | XP_011538839.1:n.-75+11999T>C | |
| XM_011540537.2:c.-75+11999T>C | XP_011538839.1:n.-75+11999T>C | |
| XM_017000116.1:c.-75+11999T>C | XP_016855605.1:n.-75+11999T>C | |
| XM_017000119.1:c.-75+11999T>C | XP_016855608.1:n.-75+11999T>C |