Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21439960A>T , CM000663.2:g.21439960A>T | GRCh38 |
| NC_000001.10:g.21766453A>T , CM000663.1:g.21766453A>T | GRCh37 |
| NC_000001.9:g.21639040A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011542274.1:c.-140+3151A>T | XP_011540576.1:n.-140+3151A>T | |
| XM_011542281.1:c.-453+3151A>T | XP_011540583.1:n.-453+3151A>T |