Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126150C= , CM000684.2:g.42126150C= | GRCh38 |
| NC_000022.10:g.42522152C= , CM000684.1:g.42522152C= | GRCh37 |
| NC_000022.9:g.40852096C= | NCBI36 |
| NG_008376.3:g.8842G= | |
| NG_008376.4:g.9661G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1453-197G= | XP_011528268.1:n.1453-197G= | |
| XM_011529967.1:c.1453-197G= | XP_011528269.1:n.1453-197G= | |
| XM_011529968.1:c.1453-223G= | XP_011528270.1:n.1453-223G= | |
| XM_011529969.1:c.1309-197G= | XP_011528271.1:n.1309-197G= | |
| XM_011529970.1:c.1300-197G= | XP_011528272.1:n.1300-197G= |