Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126069A= , CM000684.2:g.42126069A= | GRCh38 |
| NG_008376.3:g.8923T= | |
| NG_008376.4:g.9742T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011529966.1:c.1453-116T= | XP_011528268.1:n.1453-116T= |
| XM_011529967.1:c.1453-116T= | XP_011528269.1:n.1453-116T= |
| XM_011529968.1:c.1453-142T= | XP_011528270.1:n.1453-142T= |
| XM_011529969.1:c.1309-116T= | XP_011528271.1:n.1309-116T= |
| XM_011529970.1:c.1300-116T= | XP_011528272.1:n.1300-116T= |