Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126202C>A , CM000684.2:g.42126202C>A | GRCh38 |
| NC_000022.10:g.42522204C>A , CM000684.1:g.42522204C>A | GRCh37 |
| NC_000022.9:g.40852148C>A | NCBI36 |
| NG_008376.3:g.8790G>T | |
| NG_008376.4:g.9609G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1453-249G>T | XP_011528268.1:n.1453-249G>T | |
| XM_011529967.1:c.1453-249G>T | XP_011528269.1:n.1453-249G>T | |
| XM_011529968.1:c.1453-275G>T | XP_011528270.1:n.1453-275G>T | |
| XM_011529969.1:c.1309-249G>T | XP_011528271.1:n.1309-249G>T | |
| XM_011529970.1:c.1300-249G>T | XP_011528272.1:n.1300-249G>T |