Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126245C= , CM000684.2:g.42126245C= | GRCh38 |
| NC_000022.10:g.42522247C= , CM000684.1:g.42522247C= | GRCh37 |
| NC_000022.9:g.40852191C= | NCBI36 |
| NG_008376.3:g.8747G= | |
| NG_008376.4:g.9566G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1453-292G= | XP_011528268.1:n.1453-292G= | |
| XM_011529967.1:c.1453-292G= | XP_011528269.1:n.1453-292G= | |
| XM_011529968.1:c.1453-318G= | XP_011528270.1:n.1453-318G= | |
| XM_011529969.1:c.1309-292G= | XP_011528271.1:n.1309-292G= | |
| XM_011529970.1:c.1300-292G= | XP_011528272.1:n.1300-292G= |