Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7901192G>A , CM000663.2:g.7901192G>A | GRCh38 |
| NC_000001.10:g.7961252G>A , CM000663.1:g.7961252G>A | GRCh37 |
| NC_000001.9:g.7883839G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011540537.1:c.-75+11989C>T | XP_011538839.1:n.-75+11989C>T | |
| XM_011540537.2:c.-75+11989C>T | XP_011538839.1:n.-75+11989C>T | |
| XM_017000116.1:c.-75+11989C>T | XP_016855605.1:n.-75+11989C>T | |
| XM_017000119.1:c.-75+11989C>T | XP_016855608.1:n.-75+11989C>T |