Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173332377G>A , CM000663.2:g.173332377G>A | GRCh38 |
| NC_000001.10:g.173301516G>A , CM000663.1:g.173301516G>A | GRCh37 |
| NC_000001.9:g.171568139G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_037845.1:n.656-92354C>T | ||
| XM_017002229.1:c.24+109542C>T | XP_016857718.1:n.24+109542C>T | |
| XM_017002230.1:c.18+69882C>T | XP_016857719.1:n.18+69882C>T |