Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126308C>T , CM000684.2:g.42126308C>T | GRCh38 |
| NC_000022.10:g.42522310C>T , CM000684.1:g.42522310C>T | GRCh37 |
| NC_000022.9:g.40852254C>T | NCBI36 |
| NG_008376.3:g.8684G>A | |
| NG_008376.4:g.9503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1452+308G>A | XP_011528268.1:n.1452+308G>A | |
| XM_011529967.1:c.1452+308G>A | XP_011528269.1:n.1452+308G>A | |
| XM_011529968.1:c.1452+308G>A | XP_011528270.1:n.1452+308G>A | |
| XM_011529969.1:c.1308+308G>A | XP_011528271.1:n.1308+308G>A | |
| XM_011529970.1:c.1299+308G>A | XP_011528272.1:n.1299+308G>A |